| 1. |
- Sampson, Joshua N., et al.
(författare)
-
Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
-
Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
|
|
| 2. |
- Wang, Zhaoming, et al.
(författare)
-
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
|
|
| 3. |
- Haycock, Philip C., et al.
(författare)
-
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study
- 2017
-
Ingår i: JAMA Oncology. - : American Medical Association. - 2374-2437 .- 2374-2445. ; 3:5, s. 636-651
-
Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. DATA SOURCES: Genomewide association studies (GWAS) published up to January 15, 2015. STUDY SELECTION: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. DATA EXTRACTION AND SYNTHESIS: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. MAIN OUTCOMES AND MEASURES: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. RESULTS: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [ 95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [ 95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [ 95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [ 95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [ 95% CI, 0.05-0.15]). CONCLUSIONS AND RELEVANCE: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
|
|
| 4. |
- Middha, Pooja K., et al.
(författare)
-
A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
- 2023
-
Ingår i: Breast Cancer Research. - : BioMed Central (BMC). - 1465-5411 .- 1465-542X. ; 25:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background Genome-wide studies of gene-environment interactions (GxE) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide GxE analysis of similar to 7.6 million common variants and seven lifestyle/environmental risk factors for breast cancer risk overall and for estrogen receptor positive (ER +) breast cancer. Methods Analyses were conducted using 72,285 breast cancer cases and 80,354 controls of European ancestry from the Breast Cancer Association Consortium. Gene-environment interactions were evaluated using standard unconditional logistic regression models and likelihood ratio tests for breast cancer risk overall and for ER + breast cancer. Bayesian False Discovery Probability was employed to assess the noteworthiness of each SNP-risk factor pairs. Results Assuming a 1 x 10(-5) prior probability of a true association for each SNP-risk factor pairs and a Bayesian False Discovery Probability < 15%, we identified two independent SNP-risk factor pairs: rs80018847(9p13)-LINGO2 and adult height in association with overall breast cancer risk (ORint = 0.94, 95% CI 0.92-0.96), and rs4770552(13q12)-SPATA13 and age at menarche for ER + breast cancer risk (ORint = 0.91, 95% CI 0.88-0.94). Conclusions Overall, the contribution of GxE interactions to the heritability of breast cancer is very small. At the population level, multiplicative GxE interactions do not make an important contribution to risk prediction in breast cancer.
|
|
| 5. |
- Ostrom, Quinn T., et al.
(författare)
-
Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics
- 2020
-
Ingår i: International Journal of Cancer. - : John Wiley & Sons. - 0020-7136 .- 1097-0215. ; 146:3, s. 739-748
-
Tidskriftsartikel (refereegranskat)abstract
- Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have varying proportions of EA, African (AA) and Native American ancestries (NAA). It is unknown if identified GWAS loci or increased EA is associated with increased glioma risk. We assessed whether EA was associated with glioma in African Americans and Hispanics. Data were obtained for 832 cases and 675 controls from the Glioma International Case-Control Study and GliomaSE Case-Control Study previously estimated to have <80% EA, or self-identify as non-White. We estimated global and local ancestry using fastStructure and RFMix, respectively, using 1,000 genomes project reference populations. Within groups with >= 40% AA (AFR(>= 0.4)), and >= 15% NAA (AMR(>= 0.15)), genome-wide association between local EA and glioma was evaluated using logistic regression conditioned on global EA for all gliomas. We identified two regions (7q21.11, p = 6.36 x 10(-4); 11p11.12, p = 7.0 x 10-4) associated with increased EA, and one associated with decreased EA (20p12.13, p = 0.0026) in AFR(>= 0.4). In addition, we identified a peak at rs1620291 (p = 4.36 x 10(-6)) in 7q21.3. Among AMR(>= 0.15), we found an association between increased EA in one region (12q24.21, p = 8.38 x 10(-4)), and decreased EA in two regions (8q24.21, p = 0. 0010; 20q13.33, p = 6.36 x 10(-4)). No other significant associations were identified. This analysis identified an association between glioma and two regions previously identified in EA populations (8q24.21, 20q13.33) and four novel regions (7q21.11, 11p11.12, 12q24.21 and 20p12.13). The identifications of novel association with EA suggest regions to target for future genetic association studies. What's new? Glioma is rare in non-White populations, and most glioma genome-wide association studies have included only primarily European ancestry populations. Here, the authors assess whether variation in European ancestry is associated with glioma risk in populations with a combination of European, African and Native American ancestry. Based on African American and Hispanic cases from two large glioma case-control studies, this analysis shows that increased European ancestry in admixed populations may be associated with increased glioma risk. The associations between glioma and two chromosomal regions previously identified in European ancestry populations, and four novel regions, may guide future studies.
|
|
| 6. |
|
|
| 7. |
- Fauchez, Thomas J. J., et al.
(författare)
-
TRAPPIST Habitable Atmosphere Intercomparison (THAI) Workshop Report
- 2021
-
Ingår i: The Planetary Science Journal. - : Institute of Physics Publishing (IOPP). - 2632-3338. ; 2:3
-
Tidskriftsartikel (refereegranskat)abstract
- The era of atmospheric characterization of terrestrial exoplanets is just around the corner. Modeling prior to observations is crucial in order to predict the observational challenges and to prepare for the data interpretation. This paper presents the report of the TRAPPIST Habitable Atmosphere Intercomparison workshop (2020 September 14-16). A review of the climate models and parameterizations of the atmospheric processes on terrestrial exoplanets, model advancements, and limitations, as well as direction for future model development, was discussed. We hope that this report will be used as a roadmap for future numerical simulations of exoplanet atmospheres and maintaining strong connections to the astronomical community.
|
|
| 8. |
- Fujisawa, Keiko K., et al.
(författare)
-
A multivariate twin study of early literacy in Japanese kana
- 2013
-
Ingår i: Learning and individual differences. - : Elsevier. - 1041-6080 .- 1873-3425. ; 24, s. 160-167
-
Tidskriftsartikel (refereegranskat)abstract
- This first Japanese twin study of early literacy development investigated the extent to which genetic and environmental factors influence individual differences in prereading skills in 238 pairs of twins at 42 months of age. Twin pairs were individually tested on measures of phonological awareness, kana letter name/sound knowledge, receptive vocabulary, visual perception, nonword repetition, and digit span. Results obtained from univariate behavioral-genetic analyses yielded little evidence for genetic influences, but substantial shared-environmental influences, for all measures. Phenotypic confirmatory factor analysis suggested three correlated factors: phonological awareness, letter name/sound knowledge, and general prereading skills. Multivariate behavioral genetic analyses confirmed relatively small genetic and substantial shared environmental influences on the factors. The correlations among the three factors were mostly attributable to shared environment. Thus, shared environmental influences play an important role in the early reading development of Japanese children.
|
|
| 9. |
- Kattge, Jens, et al.
(författare)
-
TRY plant trait database - enhanced coverage and open access
- 2020
-
Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
-
Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
|
|
| 10. |
- Melin, Beatrice S., et al.
(författare)
-
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors
- 2017
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:5, s. 789-794
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two new GWAS, which totaled 12,496 cases and 18,190 controls. We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 x 10(-9), odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 x 10(-10), OR = 1.24), 16p13.3 (rs2562152; P = 1.93 x 10-8, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 x 10(-11), OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 x 10(-10), OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 x 10(-9), OR = 1.19), 1q44 (rs12076373; P = 2.63 x 10(-10), OR = 1.23), 2q33.3 (rs7572263; P = 2.18 x 10(-10), OR = 1.20), 3p14.1 (rs11706832; P = 7.66 x 10(-9), OR = 1.15), 10q24.33 (rs11598018; P = 3.39 x 10-8, OR = 1.14), 11q21 (rs7107785; P = 3.87 x 10(-10), OR = 1.16), 14q12 (rs10131032; P = 5.07 x 10(-11), OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 x 10(-9), OR = 1.18). These data substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.
|
|
| 11. |
- Ostrom, Quinn T., et al.
(författare)
-
Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'‐like features associated with younger age
- 2018
-
Ingår i: International Journal of Cancer. - : WILEY. - 0020-7136 .- 1097-0215. ; 143:10, s. 2359-2366
-
Tidskriftsartikel (refereegranskat)abstract
- Glioblastoma (GBM) is the most common malignant brain tumor in the United States. Incidence of GBM increases with age, and younger age‐at‐diagnosis is significantly associated with improved prognosis. While the relationship between candidate GBM risk SNPs and age‐at‐diagnosis has been explored, genome‐wide association studies (GWAS) have not previously been stratified by age. Potential age‐specific genetic effects were assessed in autosomal SNPs for GBM patients using data from four previous GWAS. Using age distribution tertiles (18–53, 54–64, 65+) datasets were analyzed using age‐stratified logistic regression to generate p values, odds ratios (OR), and 95% confidence intervals (95%CI), and then combined using meta‐analysis. There were 4,512 total GBM cases, and 10,582 controls used for analysis. Significant associations were detected at two previously identified SNPs in 7p11.2 (rs723527 [p54–63 = 1.50x10−9, OR54–63 = 1.28, 95%CI54–63 = 1.18–1.39; p64+ = 2.14x10−11, OR64+ = 1.32, 95%CI64+ = 1.21–1.43] and rs11979158 [p54–63 = 6.13x10−8, OR54–63 = 1.35, 95%CI54–63 = 1.21–1.50; p64+ = 2.18x10−10, OR64+ = 1.42, 95%CI64+ = 1.27–1.58]) but only in persons >54. There was also a significant association at the previously identified lower grade glioma (LGG) risk locus at 8q24.21 (rs55705857) in persons ages 18–53 (p18–53 = 9.30 × 10−11, OR18–53 = 1.76, 95%CI18–53 = 1.49–2.10). Within The Cancer Genome Atlas (TCGA) there was higher prevalence of ‘LGG’‐like tumor characteristics in GBM samples in those 18–53, with IDH1/2 mutation frequency of 15%, as compared to 2.1% [54–63] and 0.8% [64+] (p = 0.0005). Age‐specific differences in cancer susceptibility can provide important clues to etiology. The association of a SNP known to confer risk for IDH1/2 mutant glioma and higher prevalence of IDH1/2 mutation within younger individuals 18–53 suggests that more younger individuals may present initially with ‘secondary glioblastoma.’
|
|
| 12. |
- Ostrom, Quinn T., et al.
(författare)
-
Evaluating glioma risk associated with extent of European admixture in African-Americans and Latinos
- 2018
-
Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 78:13
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Glioma incidence is highest in non-Hispanic Whites, where it occurs ~2x as frequently compared with other race/ethnicity groups. Glioma GWAS to date have included European ancestry populations only, and it is unknown whether variants identified by these analyses are associated with glioma in non- European ancestry populations. African Americans and Hispanics are admixed populations with varying proportions of European ancestry. While global ancestry may be similar within admixed groups, the proportion of European ancestry at each allele can vary across the genome. As glioma is more common in European ancestry populations, the presence of increased local European ancestry in these admixed populations could be used to identify glioma risk loci. Here we assessed whether excess European ancestry at established risk loci (Melin et al, Nature Genetics, 2017) was associated with glioma risk in non-European ancestry populations. Global ancestry was estimated using fastStructure, and local ancestry was estimated using RFMix. Both methods used 1,000 genomes project reference populations (African: YRI; European: CEU; East Asian: CHB/JPT; and Native American: CLM/PEL/MXL). We evaluated differences in local European ancestry between cases and controls using logistic regression conditioned on global European ancestry within 500kb of 25 previously identified risk variants among individuals with ≥50% African ancestry, and ≥30% Native American ancestry for all gliomas, and for grade IV glioblastoma (GBM) and grade II-III non-GBM. There were 347 individuals (184 cases and 163 controls) with ≥50% global African ancestry, and 277 individuals (153 cases and 124 controls) with ≥30% global American ancestry. There was no significant difference in proportion of global European ancestry between cases and controls with ≥50% global African ancestry (cases: 18.2%, controls: 17.7%, p=0.6834), and no significant difference in proportion of global European ancestry between cases and controls with ≥30% global American ancestry (cases: 51.1%, controls: 49.0%, p=0.2123). Among individuals with >50% African ancestry, we observed a nominally significant association between all glioma and increased local European ancestry at 7p11.2 (EGFR, pmin=0.0070) and between GBM and increased local European ancestry at 22q13.1 (CSNK1E, pmin=0.0098), both near SNPs previously associated with glioblastoma in majority European-ancestry populations. The dataset used for this analysis represents the largest collection of genotyped non-European glioma cases. These results suggest that glioma risk in African Americans may be associated with an increased local European ancestry variants at glioma risk loci previously identified in majority European ancestry populations (7p11.2 and 22q13.1).
|
|
| 13. |
- Ostrom, Quinn T., et al.
(författare)
-
Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21
- 2018
-
Ingår i: Scientific Reports. - : NATURE PUBLISHING GROUP. - 2045-2322. ; 8
-
Tidskriftsartikel (refereegranskat)abstract
- Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous glioma genome-wide association studies (GWAS) have not stratified by sex. Potential sex-specific genetic effects were assessed in autosomal SNPs and sex chromosome variants for all glioma, GBM and non-GBM patients using data from four previous glioma GWAS. Datasets were analyzed using sex-stratified logistic regression models and combined using meta-analysis. There were 4,831 male cases, 5,216 male controls, 3,206 female cases and 5,470 female controls. A significant association was detected at rs11979158 (7p11.2) in males only. Association at rs55705857 (8q24.21) was stronger in females than in males. A large region on 3p21.31 was identified with significant association in females only. The identified differences in effect of risk variants do not fully explain the observed incidence difference in glioma by sex.
|
|
| 14. |
- Amirian, E. Susan, et al.
(författare)
-
Aspirin, NSAIDs, and Glioma Risk : Original Data from the Glioma International Case-Control Study and a Meta-analysis
- 2019
-
Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association for Cancer Research (AACR). - 1055-9965 .- 1538-7755. ; 28:3, s. 555-562
-
Tidskriftsartikel (refereegranskat)abstract
- Background: There have been few studies of sufficient size to address the relationship between glioma risk and the use of aspirin or NSAIDs, and results have been conflicting. The purpose of this study was to examine the associations between glioma and aspirin/NSAID use, and to aggregate these findings with prior published studies using meta-analysis.Methods: The Glioma International Case-Control Study (GICC) consists of 4,533 glioma cases and 4,171 controls recruited from 2010 to 2013. Interviews were conducted using a standardized questionnaire to obtain information on aspirin/NSAID use. We examined history of regular use for ≥6 months and duration-response. Restricted maximum likelihood meta-regression models were used to aggregate site-specific estimates, and to combine GICC estimates with previously published studies.Results: A history of daily aspirin use for ≥6 months was associated with a 38% lower glioma risk, compared with not having a history of daily use [adjusted meta-OR = 0.62; 95% confidence interval (CI), 0.54–0.70]. There was a significant duration-response trend (P = 1.67 × 10−17), with lower ORs for increasing duration of aspirin use. Duration-response trends were not observed for NSAID use. In the meta-analysis aggregating GICC data with five previous studies, there was a marginally significant association between use of aspirin and glioma (mOR = 0.84; 95% CI, 0.70–1.02), but no association for NSAID use.Conclusions: Our study suggests that aspirin may be associated with a reduced risk of glioma.Impact: These results imply that aspirin use may be associated with decreased glioma risk. Further research examining the association between aspirin use and glioma risk is warranted.
|
|
| 15. |
- Atkins, Isabelle, et al.
(författare)
-
Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma
- 2019
-
Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 79:8, s. 2065-2071
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have so far identified 25 loci associated with glioma risk, with most showing specificity for either glioblastoma (GBM) or non-GBM tumors. The majority of these GWAS susceptibility variants reside in noncoding regions and the causal genes underlying the associations are largely unknown. Here we performed a transcriptome-wide association study to search for novel risk loci and candidate causal genes at known GWAS loci using Genotype-Tissue Expression Project (GTEx) data to predict cis-predicted gene expression in relation to GBM and non-GBM risk in conjunction with GWAS summary statistics on 12,488 glioma cases (6,183 GBM and 5,820 non-GBM) and 18,169 controls. Imposing a Bonferroni-corrected significance level of P < 5.69 x 10(-6), candidate novel risk locus for GBM (mean Z = 4.43; P = 5.68 x 10(-6)). GALNT6 resides at least 55 Mb away from any previously identified glioma risk variant, while all other 30 significantly associated genes were located within 1 Mb of known GWAS-identified loci and were not significant after conditioning on the known GWAS-identified variants. These data identify a novel locus (GALNT6 at 12q13.33) and 30 genes at 12 known glioma risk loci associated with glioma risk, providing further insights into glioma tumorigenesis.Significance: This study identifies new genes associated with glioma risk, increasing understanding of how these tumors develop.
|
|
| 16. |
- Byrne, Brian, et al.
(författare)
-
Behavior-genetic studies of academic performance in school students : A commentary for professional in psychology and education
- 2019. - 1
-
Ingår i: Reading development and difficulties. - Cham : Springer. - 9783030265496 - 9783030265502 ; , s. 213-232
-
Bokkapitel (refereegranskat)abstract
- Available behavior-genetic research indicates that the single largest factor influencing individual differences in literacy development is genetic endowment. We briefly review some typical evidence and methodology used in studying the behavior-genetics of reading. We then outline three hypothetical educational scenarios and demonstrate how behavior-genetic studies might play out in them, with the aim of enhancing the critical capacity of school psychologists and other educational professionals to evaluate research findings in this area. We show that heritability estimates will tend to be higher in educational environments in which the instruction and other factors are more uniform, that the way subsamples are combined can affect estimates, and that population-level estimates cannot be used to determine the etiology of any individual child’s performance. We address and dismiss genetic determinism, and review evidence to suggest that genetic accounts of reading disability may reduce blame and stigma yet increase pessimism about successful intervention. However, we argue that continued research into optimal ways to design and deliver curricula is quite compatible with the substantial heritability of individual differences in literacy and has already provided grounds for optimism. We also suggest that genetically derived constraints on academic progress bring into sharp focus questions about the goals of education.
|
|
| 17. |
- Byrne, Brian, et al.
(författare)
-
Genetic and environmental influences on aspects of literacy and language in early childhood : Continuity and change from preschool to Grade 2
- 2009
-
Ingår i: JOURNAL OF NEUROLINGUISTICS. - : Elsevier BV. - 0911-6044. ; 22:3, s. 219-236
-
Tidskriftsartikel (refereegranskat)abstract
- Early literacy and language skills of twin children in the USA, Australia, and Scandinavia were explored in a genetically sensitive design (maximum N = 615 pairs). For this article, we report aspects of preschool and Grade 2 data. In Grade 2, there were strong genetic influences on word reading, reading comprehension, and spelling. Vocabulary was about equally affected by genes and shared environment. Multivariate analyses indicated substantial genetic overlap among the Grade 2 literacy variables. Longitudinal analyses showed that genetic factors evident at the preschool stage continued to affect literacy and vocabulary three years later in Grade 2, but there was also evidence of new genetic factors coming into play over the time interval, at least for literacy. Suggestions are made about the search for underlying biological and cognitive processes, and educational implications are explored.
|
|
| 18. |
|
|
| 19. |
- Byrne, Brian, et al.
(författare)
-
Teacher Effects in Early Literacy Development: Evidence From a Study of Twins
- 2010
-
Ingår i: Journal of Educational Psychology. - : Apa American Psychological Association. - 0022-0663 .- 1939-2176. ; 102:1, s. 32-42
-
Tidskriftsartikel (refereegranskat)abstract
- It is often assumed that differences in teacher characteristics area major source of variability in childrens educational achievements. We examine this assumption for early literacy achievement by calculating the correlations between pairs of twin children who either shared or did not share a teacher in kindergarten, Grade 1, and Grade 2. Teacher effects-or, more strictly, classroom effects-would show up as higher correlations for same-class than for different-class twin pairs. Same-class correlations were generally higher than different-class correlations.. though not significantly so on most occasions. On the basis of the results, we estimate that the maximum variance accounted for by being assigned to the same or different classrooms is 8%. This is an upper-bound figure for a teacher effect because factors other than teachers may contribute to variation attributable to classroom assignment. We discuss the limitations of the study and draw out some of its educational implications.
|
|
| 20. |
|
|
| 21. |
- Disney-Hogg, Linden, et al.
(författare)
-
Impact of atopy on risk of glioma : a Mendelian randomisation study
- 2018
-
Ingår i: BMC Medicine. - : BioMed Central. - 1741-7015. ; 16
-
Tidskriftsartikel (refereegranskat)abstract
- Background: An inverse relationship between allergies with glioma risk has been reported in several but not all epidemiological observational studies. We performed an analysis of genetic variants associated with atopy to assess the relationship with glioma risk using Mendelian randomisation (MR), an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations.Methods: Two-sample MR was undertaken using genome-wide association study data. We used single nucleotide polymorphisms (SNPs) associated with atopic dermatitis, asthma and hay fever, IgE levels, and self-reported allergy as instrumental variables. We calculated MR estimates for the odds ratio (OR) for each risk factor with glioma using SNP-glioma estimates from 12,488 cases and 18,169 controls, using inverse-variance weighting (IVW), maximum likelihood estimation (MLE), weighted median estimate (WME) and mode-based estimate (MBE) methods. Violation of MR assumptions due to directional pleiotropy were sought using MR-Egger regression and HEIDI-outlier analysis.Results: Under IVW, MLE, WME and MBE methods, associations between glioma risk with asthma and hay fever, self-reported allergy and IgE levels were non-significant. An inverse relationship between atopic dermatitis and glioma risk was found by IVW (OR 0.96, 95% confidence interval (CI) 0.93-1.00, P = 0.041) and MLE (OR 0.96, 95% CI 0.94-0.99, P = 0.003), but not by WME (OR 0.96, 95% CI 0.91-1.01, P = 0.114) or MBE (OR 0.97, 95% CI 0.92-1.02, P = 0.194).Conclusions: Our investigation does not provide strong evidence for relationship between atopy and the risk of developing glioma, but findings do not preclude a small effect in relation to atopic dermatitis. Our analysis also serves to illustrate the value of using several MR methods to derive robust conclusions.
|
|
| 22. |
- Disney-Hogg, Linden, et al.
(författare)
-
Influence of obesity-related risk factors in the aetiology of glioma
- 2018
-
Ingår i: British Journal of Cancer. - : Nature Publishing Group. - 0007-0920 .- 1532-1827. ; 118:7, s. 1020-1027
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation framework to examine whether obesity-related traits influence glioma risk. This methodology reduces bias from confounding and is not affected by reverse causation. METHODS: Genetic instruments were identified for 10 key obesity-related risk factors, and their association with glioma risk was evaluated using data from a genome-wide association study of 12,488 glioma patients and 18,169 controls. The estimated odds ratio of glioma associated with each of the genetically defined obesity-related traits was used to infer evidence for a causal relationship. RESULTS: No convincing association with glioma risk was seen for genetic instruments for body mass index, waist-to-hip ratio, lipids, type-2 diabetes, hyperglycaemia or insulin resistance. Similarly, we found no evidence to support a relationship between obesity-related traits with subtypes of glioma-glioblastoma (GBM) or non-GBM tumours. CONCLUSIONS: This study provides no evidence to implicate obesity-related factors as causes of glioma.
|
|
| 23. |
- Ebejer, Jane L., et al.
(författare)
-
Genetic and Environmental Influences on Inattention, Hyperactivity-Impulsivity, and Reading: Kindergarten to Grade 2
- 2010
-
Ingår i: Scientific Studies of Reading. - : Taylor and Francis. - 1088-8438 .- 1532-799X. ; 14:4, s. 293-316
-
Tidskriftsartikel (refereegranskat)abstract
- Twin children from Australia, Scandinavia, and the United States were assessed for inattention, hyperactivity-impulsivity, and reading across the first 3 school years. Univariate behavior-genetic analyses indicated substantial heritability for all three variables in all years. Longitudinal analyses showed one genetic source operating across the time span and a second entering in the second school year for each variable, though possibly not reliable for inattention. Other analyses confirmed previous findings of pleiotropy (shared genes) between inattention and reading and showed that this genetic overlap is in place from kindergarten onwards and is restricted to one of the genetic sources that affect reading and inattention. The results extend previous conclusions about the developmental trajectories of inattention, hyperactivity-impulsivity, and reading and their relationships. Limitations of this study are discussed, as are educational implications.
|
|
| 24. |
- Elwér, Åsa, et al.
(författare)
-
A retrospective longitudinal study of cognitive and language skills in poor reading comprehension
- 2015
-
Ingår i: Scandinavian Journal of Psychology. - : Wiley: 24 months. - 0036-5564 .- 1467-9450. ; 56:2, s. 157-166
-
Tidskriftsartikel (refereegranskat)abstract
- Fifty-six specific poor reading comprehenders (SPRC) were selected in Grade 4 and retrospectively compared to good comprehenders at preschool (age 5) and at the end of kindergarten, Grade 1, and Grade 2. The results revealed deficits in vocabulary, grammar, verbal memory and early deficits in phonological awareness in most of the SPRC sample, beginning in preschool. The reading comprehension deficits in children with SPRC were not as marked in earlier assessments in Grade 1 and 2, probably because of the greater dependence on word decoding in reading comprehension in the early grades.
|
|
| 25. |
- Furnes, Bjarte, et al.
(författare)
-
Investigating the Double-Deficit Hypothesis in More and Less Transparent Orthographies: A Longitudinal Study from Preschool to Grade 2
- 2019
-
Ingår i: Scientific Studies of Reading. - : ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD. - 1088-8438 .- 1532-799X. ; 23:6, s. 478-493
-
Tidskriftsartikel (refereegranskat)abstract
- We investigated the double-deficit hypothesis (DDH) in samples of U.S. (N = 489), Australian (N = 264), and Scandinavian (N = 293) children followed from preschool to grade 2. Children were assigned to double deficit, single deficit and no deficit subtypes in preschool, kindergarten, and grade 1 and compared on reading and spelling in grades 1 and 2. In most analyses, the double deficit subtype scored significantly lower in reading and spelling than the single deficits, a pattern of findings that was identical across samples. Moreover, across countries, RAN deficits showed a stronger effect on reading whereas PA deficits showed stronger effects on spelling. Overall, the results supported the basic premises of the DDH suggesting that the double deficit subtype represents the most impaired readers, and that RAN and PA are separable deficits with different effects on reading and spelling. The results also supported a universal view of literacy development, with similar predictive patterns of DDH subtypes across orthographies.
|
|
| 26. |
- Furnes, Bjarte, et al.
(författare)
-
The stability and developmental interplay of word reading and spelling: a cross-linguistic longitudinal study from kindergarten to grade 4
- 2023
-
Ingår i: Reading and writing. - : SPRINGER. - 0922-4777 .- 1573-0905.
-
Tidskriftsartikel (refereegranskat)abstract
- We investigated the stability and developmental interplay of word reading and spelling in samples of Swedish (N = 191) and U.S. children (N = 489) followed across four time points: end of kindergarten, grades 1, 2, and 4. Cross-lagged path models revealed that reading and spelling showed moderate to strong autoregressive effects, with reading being more predictable over time than spelling. Regarding the developmental interplay, we found a bidirectional relationship between reading and spelling from kindergarten to Grade 1. However, starting in Grade 1, reading predicted subsequent spelling beyond the autoregressor but not the other way around. In all analyses, the findings were similar across the two orthographies. The theoretical and practical implications of these findings are discussed.
|
|
| 27. |
- Grasby, Katrina L., et al.
(författare)
-
Estimating Classroom-Level Influences on Literacy and Numeracy: A Twin Study
- 2020
-
Ingår i: Journal of Educational Psychology. - : AMER PSYCHOLOGICAL ASSOC. - 0022-0663 .- 1939-2176. ; 112:6, s. 1154-1166
-
Tidskriftsartikel (refereegranskat)abstract
- Classroom-level influences on literacy skills in kindergarten through Grade 2, and on literacy and numeracy skills in Grades 3. 5, 7, and 9. were examined by comparing the similarity of twins who shared or did not share classrooms with each other. We analyzed two samples using structural equation modeling adapted for twin data. The first, Study 1, was of Australia-wide tests of literacy and numeracy, with 1,098; 1,080; 790, and 812 complete twin pairs contributing data for Grades 3, 5, 7, and 9, respectively. The second, Study 2, was of literacy tests from 753 twin pairs from kindergarten through Grade 2, which included a sample of United States and Australian students and was a reanalysis and extension of Byrne et al. (2010). Classroom effects were mostly nonsignificant; they accounted for only 2-3% of variance in achievement when averaged over tests and grades. Although the averaged effects may represent a lower-bound figure for classroom effects, and the design cannot detect classroom influences limited to individual students, the results are at odds with claims in public discourse of substantial classroom-level influences, which are mostly portrayed as teacher effects.
|
|
| 28. |
- Jacobs, Kevin B, et al.
(författare)
-
Detectable clonal mosaicism and its relationship to aging and cancer.
- 2012
-
Ingår i: Nature Genetics. - New York : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 44:6, s. 651-658
-
Tidskriftsartikel (refereegranskat)abstract
- In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
|
|
| 29. |
- Livingstone, Luisa T., et al.
(författare)
-
Does the Environment Have an Enduring Effect on ADHD? A Longitudinal Study of Monozygotic Twin Differences in Children
- 2016
-
Ingår i: Journal of Abnormal Child Psychology. - : SPRINGER/PLENUM PUBLISHERS. - 0091-0627 .- 1573-2835. ; 44:8, s. 1487-1501
-
Tidskriftsartikel (refereegranskat)abstract
- Environmental factors play a key role in the development of Attention-Deficit/Hyperactivity Disorder (ADHD), but the long-term effects of these factors are still unclear. This study analyses data from 1024 monozygotic (identical) twins in Australia, the United States, and Scandinavia who were assessed for ADHD in Preschool, Kindergarten, Grade 1, and Grade 2. Differences within each twin pair were used as a direct measure of non-shared environmental effects. The Trait-State-Occasion (TSO) model developed by Cole et al. (Psychological Methods, 10, 3-20, 2005) was used to separate the non-shared environmental effects into stable factors, and transient factors that excluded measurement error. Stable factors explained, on average, 44 % and 39 % of the environmental variance in hyperactive-impulsive and inattentive symptoms, respectively. Transient effects explained the remaining 56 % and 60 % of variance. The proportion of stable variance was higher than expected based on previous research, suggesting promise for targeted interventions if future research identifies these stable risk factors.
|
|
| 30. |
- MacDonald, Beatriz, et al.
(författare)
-
Cross-Country Differences in Parental Reporting of Symptoms of ADHD
- 2019
-
Ingår i: Journal of Cross-Cultural Psychology. - : Sage Publications. - 0022-0221 .- 1552-5422. ; 50:6, s. 806-824
-
Tidskriftsartikel (refereegranskat)abstract
- Previous studies within the United States suggest there are cultural and contextual influences on how attention-deficit/hyperactivity disorder (ADHD) symptoms are perceived. If such influences operate within a single country, they are likely to also occur between countries. In the current study, we tested whether country differences in mean ADHD scores also reflect cultural and contextual differences, as opposed to actual etiological differences. The sample for the present study included 974 participants from four countries tested at two time points, the end of preschool and the end of second grade. Consistent with previous research, we found lower mean ADHD scores in Norway and Sweden in comparison with Australia and the United States, and we tested four explanations for these country differences: (a) genuine etiological differences, (b) slower introduction to formal academic skills in Norway and Sweden than in the United States and Australia that indicated a context difference, (c) underreporting tendency in Norway and Sweden, or (d) overreporting tendency in the United States and Australia. Either under- or overreporting would be examples of cultural differences in the perception of ADHD symptoms. Of these explanations, results of ADHD measurement equivalence tests across countries rejected the first three explanations and supported the fourth explanation: an overreporting tendency in the United States and Australia. These findings indicate that parental reporting of ADHD symptoms is more accurate in Norway and Sweden than in Australia and the United States, and, thus, have important clinical and educational implications for how parental reporting informs an ADHD diagnosis in these countries.
|
|
| 31. |
- McGowan, Dipti, et al.
(författare)
-
Differential Influences of Genes and Environment Across the Distribution of Reading Ability
- 2019
-
Ingår i: Behavior Genetics. - : SPRINGER. - 0001-8244 .- 1573-3297. ; 49:5, s. 425-431
-
Tidskriftsartikel (refereegranskat)abstract
- We partitioned early childhood reading into genetic and environmental sources of variance and examined the full distribution of ability levels from low through normal to high as computed by quantile regression. The full sample comprised twin pairs measured at preschool (n = 977), kindergarten (n = 1028), grade 1 (n = 999), and grade 2 (n = 1000). Quantile regression analyses of the full distribution of literacy ability showed genetic influence in all grades from preschool to grade 2. At preschool, the low end of the distribution had higher genetic influence than the high end of the distribution and the shared environment influence was the opposite. These shared environment influences of preschool became insignificant with formal schooling. This suggests that higher scores in pre-literacy skills (preschool) are more influenced by shared environment factors, though these are short-lived. This study discusses the factors that may be influencing the results.
|
|
| 32. |
- Miller, Amanda C, et al.
(författare)
-
Reading Comprehension in Children with ADHD: Cognitive Underpinnings of the Centrality Deficit
- 2013
-
Ingår i: Journal of Abnormal Child Psychology. - : Springer Verlag (Germany). - 0091-0627 .- 1573-2835. ; 41:3, s. 473-483
-
Tidskriftsartikel (refereegranskat)abstract
- We examined reading comprehension in children with ADHD by assessing their ability to build a coherent mental representation that allows them to recall central and peripheral information. We compared children with ADHD (mean age 9.78) to word reading-matched controls (mean age 9.89) on their ability to retell a passage. We found that even though children with ADHD recalled more central than peripheral information, they showed their greatest deficit, relative to controls, on central information-a centrality deficit (Miller and Keenan, Annals of Dyslexia 59:99-113, 2009). We explored the cognitive underpinnings of this deficit using regressions to compare how well cognitive factors (working memory, inhibition, processing speed, and IQ) predicted the ability to recall central information, after controlling for word reading ability, and whether these cognitive factors interacted with ADHD symptoms. Working memory accounted for the most unique variance. Although previous evidence for reading comprehension difficulties in children with ADHD have been mixed, this study suggests that even when word reading ability is controlled, children with ADHD have difficulty building a coherent mental representation, and this difficulty is likely related to deficits in working memory.
|
|
| 33. |
- Olson, Richard K, et al.
(författare)
-
Why Do Children Differ in Their Development of Reading and Related Skills?
- 2014
-
Ingår i: Scientific Studies of Reading. - : Routledge. - 1088-8438 .- 1532-799X. ; 18:1, s. 38-54
-
Tidskriftsartikel (refereegranskat)abstract
- Modern behavior-genetic studies of twins in the United States, Australia, Scandinavia, and the United Kingdom show that genes account for most of the variance in children's reading ability by the end of the 1st year of formal reading instruction. Strong genetic influence continues across the grades, though the relevant genes vary for reading words and comprehending text, and some of the genetic influence comes through a gene–environment correlation. Strong genetic influences do not diminish the importance of the environment for reading development in the population and for helping struggling readers, but they question setting the same minimal performance criterion for all children.
|
|
| 34. |
|
|
| 35. |
- Peterson, Robin L, et al.
(författare)
-
Literacy acquisition influences children's rapid automatized naming
- 2018
-
Ingår i: Developmental Science. - : Wiley-Blackwell Publishing Inc.. - 1363-755X .- 1467-7687. ; 21:3
-
Tidskriftsartikel (refereegranskat)abstract
- Previous research has established that learning to read improves children's performance on reading‐related phonological tasks, including phoneme awareness (PA) and nonword repetition. Few studies have investigated whether literacy acquisition also promotes children's rapid automatized naming (RAN). We tested the hypothesis that literacy acquisition should influence RAN in an international, longitudinal population sample of twins. Cross‐lagged path models evaluated the relationships among literacy, PA, and RAN across four time points from pre‐kindergarten through grade 4. Consistent with previous research, literacy showed bidirectional relationships with reading‐related oral language skills. We found novel evidence for an effect of earlier literacy on later RAN, which was most evident in children at early phases of literacy development. In contrast, the influence of earlier RAN on later literacy was predominant among older children. These findings imply that the association between these two related skills is moderated by development. Implications for models of reading development and for dyslexia research are discussed.
|
|
| 36. |
- Robertson, Lindsay B, et al.
(författare)
-
Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation
- 2010
-
Ingår i: Familial Cancer. - : Springer Science and Business Media LLC. - 1389-9600 .- 1573-7292. ; 9:3, s. 413-421
-
Tidskriftsartikel (refereegranskat)abstract
- There is increasing recognition of familial propensity to glioma as a distinct clinical entity beyond a few rare syndromes; however its genetic basis is poorly understood. The role of p16(INK4A)/p14(ARF) and p53 mutations in sporadic glioma provides a strong rationale for investigating germline mutations in these genes as a cause of familial glioma. To survey the familial glioma phenotype and examine the contribution of germline mutation in p16(INK4A)/p14(ARF) and p53 to the disease we have analyzed a series of 101 index familial cases collected through the GLIOGENE Consortium (http://braintumor.epigenetic.org/). There was little evidence for within family correlations for tumour histology, suggesting generic susceptibility to glial tumors. We did not detect any functional mutations in p16(INK4A) or p14(ARF). One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. Our findings provide no evidence that p16(INK4A)/p14(ARF) and p53 mutations contribute significantly to familial glioma.
|
|
| 37. |
- Samuelsson, Stefan, 1964-, et al.
(författare)
-
Environmental and genetic influences on prereading skills in Australia, Scandinavia, and the United States
- 2005
-
Ingår i: Journal of Educational Psychology. - : American Psychological Association (APA). - 0022-0663 .- 1939-2176. ; 97:4, s. 705-722
-
Tidskriftsartikel (refereegranskat)abstract
- Individual differences in measures of prereading skills and in questionnaire measures of 4-5-year-old twins' print environments in Australia, Scandinavia, and the United States were explored with a behavioral-genetic design. Modest phenotypic correlations were found between environmental measures and the twins' print knowledge, general verbal ability, and phoneme awareness. Lower print knowledge in Scandinavian twins was related to country differences in preschool print environment. Latent-trait behavioral-genetic analyses indicated very strong shared-environment influences on individual differences in Print Knowledge. Genetic influence was also significant. Several other prereading skills varied in their environmental and genetic influence, including a significant contrast between Phonological Awareness and Print Knowledge. Rapid Naming also revealed very strong genetic influence, as did Verbal Memory. Stronger shared-environment influences were found for Vocabulary and Grammar/Morphology. Genetic and environmental correlations among latent traits for General Verbal Ability, Phonological Awareness, and Print Knowledge were high, but there were also significant independent genetic and environmental contributions to each skill. Practical implications include the need for substantial and sustained instructional support for children hampered by genetic constraints on early literacy development. Copyright 2005 by the American Psychological Association.
|
|
| 38. |
- Samuelsson, Stefan, et al.
(författare)
-
Response to early literacy instruction in the United States, Australia, and Scandinavia : A behavioral-genetic analysis
- 2008
-
Ingår i: Learning and individual differences. - : Elsevier BV. - 1041-6080 .- 1873-3425. ; 18:3, s. 289-295
-
Tidskriftsartikel (refereegranskat)abstract
- Genetic and environmental influences on early reading and spelling at the end of kindergarten and Grade 1 were compared across three twin samples tested in the United States, Australia, and Scandinavia. Proportions of variance due to genetic influences on kindergarten reading were estimated at .84 in Australia, .68 in the U.S., and .33 in Scandinavia. The effects of shared environment on kindergarten reading were estimated at .09 in Australia, .25 in the U.S., and .52 in Scandinavia. A similar pattern of genetic and environmental influences was obtained for kindergarten spelling. One year later when twins in all three samples had received formal literacy instruction for at least one full school year, heritability was similarly high across country, with estimated genetic influences varying between .79 and .83 for reading and between .62 and .79 for spelling. These findings indicate that the pattern of genetic and environmental influences on early reading and spelling development varies according to educational context, with genetic influence increasing as a function of increasing intensity of early instruction. Longitudinal analyses revealed genetic continuity for both reading and spelling between kindergarten and Grade 1 across country. However, a new genetic factor comes into play accounting for independent variance in reading at Grade 1 in the U.S. and Scandinavia, suggesting a change in genetic influences on reading. Implications for response-to-instruction are discussed.
|
|
| 39. |
- Saunders, Charlie N., et al.
(författare)
-
Lack of association between modifiable exposures and glioma risk : a Mendelian randomization analysis
- 2020
-
Ingår i: Neuro-Oncology. - : OXFORD UNIV PRESS INC. - 1522-8517 .- 1523-5866. ; 22:2, s. 207-215
-
Forskningsöversikt (refereegranskat)abstract
- Background. The etiological basis of glioma is poorly understood. We have used genetic markers in a Mendelian randomization (MR) framework to examine if lifestyle, cardiometabolic, and inflammatory factors influence the risk of glioma. This methodology reduces bias from confounding and is not affected by reverse causation. Methods. We identified genetic instruments for 37 potentially modifiable risk factors and evaluated their association with glioma risk using data from a genome-wide association study of 12488 glioma patients and 18169 controls. We used the estimated odds ratio of glioma associated with each of the genetically defined traits to infer evidence for a causal relationship with the following exposures: Lifestyle and dietary factors-height, plasma insulin-like growth factor 1, blood carnitine, blood methionine, blood selenium, blood zinc, circulating adiponectin, circulating carotenoids, iron status, serum calcium, vitamins (A1, B12, B6, E, and 25-hydroxyvitamin D), fatty acid levels (monounsaturated, omega-3, and omega-6) and circulating fetuin-A; Cardiometabolic factors-birth weight, high density lipoprotein cholesterol, low density lipoprotein cholesterol, total cholesterol, total triglycerides, basal metabolic rate, body fat percentage, body mass index, fasting glucose, fasting proinsulin, glycated hemoglobin levels, diastolic and systolic blood pressure, waist circumference, waist-to-hip ratio; and Inflammatory factors- C-reactive protein, plasma interleukin-6 receptor subunit alpha and serum immunoglobulin E. Results. After correction for the testing of multiple potential risk factors and excluding associations driven by one single nucleotide polymorphism, no significant association with glioma risk was observed (ie, P-Corrected > 0.05). Conclusions. This study did not provide evidence supporting any of the 37 factors examined as having a significant influence on glioma risk.
|
|
| 40. |
- Shete, Sanjay, et al.
(författare)
-
Genome-wide high-density SNP linkage search for glioma susceptibility loci : results from the gliogene consortium
- 2011
-
Ingår i: Cancer Research. - 0008-5472 .- 1538-7445. ; 71:24, s. 7568-7575
-
Tidskriftsartikel (refereegranskat)abstract
- Gliomas, which generally have a poor prognosis, are the most common primary malignant brain tumors in adults. Recent genome-wide association studies have shown that inherited susceptibility plays a role in the development of glioma. Although first-degree relatives of patients exhibit a two-fold increased risk of glioma, the search for susceptibility loci in familial forms of the disease has been challenging because the disease is relatively rare, fatal, and heterogeneous, making it difficult to collect sufficient biosamples from families for statistical power. To address this challenge, the Genetic Epidemiology of Glioma International Consortium (Gliogene) was formed to collect DNA samples from families with two or more cases of histologically confirmed glioma. In this study, we present results obtained from 46 U.S. families in which multipoint linkage analyses were undertaken using nonparametric (model-free) methods. After removal of high linkage disequilibrium single-nucleotide polymorphism, we obtained a maximum nonparametric linkage score (NPL) of 3.39 (P = 0.0005) at 17q12-21.32 and the Z-score of 4.20 (P = 0.000007). To replicate our findings, we genotyped 29 independent U.S. families and obtained a maximum NPL score of 1.26 (P = 0.008) and the Z-score of 1.47 (P = 0.035). Accounting for the genetic heterogeneity using the ordered subset analysis approach, the combined analyses of 75 families resulted in a maximum NPL score of 3.81 (P = 0.00001). The genomic regions we have implicated in this study may offer novel insights into glioma susceptibility, focusing future work to identify genes that cause familial glioma. Cancer Res; 71(24); 7568-75. (C) 2011 AACR.
|
|
| 41. |
- Takahashi, Hannah, et al.
(författare)
-
Mendelian randomisation study of the relationship between vitamin D and risk of glioma
- 2018
-
Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 8
-
Tidskriftsartikel (refereegranskat)abstract
- To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH) D) levels using Mendelian randomisation (MR), an approach unaffected by biases from confounding. Two-sample MR was undertaken using genome-wide association study data. Single nucleotide polymorphisms (SNPs) associated with 25(OH) D levels were used as instrumental variables (IVs). We calculated MR estimates for the odds ratio (OR) for 25(OH) D levels with glioma using SNP-glioma estimates from 12,488 cases and 18,169 controls, using inverse-variance weighted (IVW) and maximum likelihood estimation (MLE) methods. A non-significant association between 25(OH) D levels and glioma risk was shown using both the IVW (OR = 1.21, 95% confidence interval [CI] = 0.90-1.62, P = 0.201) and MLE (OR = 1.20, 95% CI = 0.98-1.48, P = 0.083) methods. In an exploratory analysis of tumour subtype, an inverse relationship between 25(OH)D levels and glioblastoma (GBM) risk was identified using the MLE method (OR = 0.62, 95% CI = 0.43-0.89, P = 0.010), but not the IVW method (OR = 0.62, 95% CI = 0.37-1.04, P = 0.070). No statistically significant association was shown between 25(OH) D levels and non-GBM glioma. Our results do not provide evidence for a causal relationship between 25(OH) D levels and all forms of glioma risk. More evidence is required to explore the relationship between 25(OH) D levels and risk of GBM.
|
|
| 42. |
- Treiman, Rebecca, et al.
(författare)
-
Predicting Later Spelling from Kindergarten Spelling in US, Australian, and Swedish Children
- 2023
-
Ingår i: Scientific Studies of Reading. - : ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD. - 1088-8438 .- 1532-799X. ; 27:5, s. 428-442
-
Tidskriftsartikel (refereegranskat)abstract
- PurposeUsing data from 1,868 children from the US, Australia, and Sweden who took a 10-word spelling test in kindergarten and a standardized spelling test in Grades 1, 2, and (except for the Australian children) Grade 4, we examined two questions. First, does the quality of a childs errors on the kindergarten test help predict later spelling performance even after controlling for the number of correct responses on the kindergarten test? Second, does spelling develop at a faster pace in Swedish than in English?MethodWe measured kindergarten error quality based on the number of letter additions, deletions, and substitutions by which each error differed from the correct spelling. Using mixed-model analyses, we examined the relationship of this and other variables to later spelling performance.ResultsKindergarten error quality contributed significantly to the prediction of later spelling performance even after consideration of the number of correct spellings in kindergarten and other relevant variables. The Swedish children showed more rapid growth in spelling than the U.S. and Australian children, a difference that may reflect the greater transparency of sound-to-spelling links in Swedish.ConclusionInformation from a spelling test that is typically discarded - information about the nature of the errors -has value.
|
|
