| 1. |
- Ahmad, Shafqat, et al.
(author)
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Gene x environment interactions in obesity : the state of the evidence
- 2013
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In: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 75:2-4, s. 106-115
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Journal article (peer-reviewed)abstract
- Background/Aims: Obesity is a pervasive and highly prevalent disease that poses substantial health risks to those it affects. The rapid emergence of obesity as a global epidemic and the patterns and distributions of the condition within and between populations suggest that interactions between inherited biological factors (e.g. genes) and relevant environmental factors (e.g. diet and physical activity) may underlie the current obesity epidemic.Methods: We discuss the rationale for the assertion that gene x lifestyle interactions cause obesity, systematically appraise relevant literature, and consider knowledge gaps future studies might seek to bridge. Results: We identified >200 relevant studies, of which most are relatively small scale and few provide replication data.Conclusion: Although studies on gene x lifestyle interactions in obesity point toward the presence of such interactions, improved data standardization, appropriate pooling of data and resources, innovative study designs, and the application of powerful statistical methods will be required if translatable examples of gene x lifestyle interactions in obesity are to be identified. Future studies, of which most will be observational, should ideally be accompanied by appropriate replication data and, where possible, by analogous findings from experimental settings where clinically relevant traits (e.g. weight regain and weight cycling) are outcomes.(C) 2013 S. Karger AG, Basel
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| 2. |
- Chozas, A., et al.
(author)
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Family history of breast cancer is associated with elevated risk of prostate cancer : evidence for shared genetic risks
- 2022
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In: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 87, s. 12-19
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Journal article (peer-reviewed)abstract
- Introduction: Although breast and prostate cancers arise in different organs and are more frequent in the opposite sex, multiple studies have reported an association between their family history. Analysis of single nucleotide polymorphism data, based on distant relatives, has revealed a small positive genetic correlation between these cancers explained by common variants. The estimate of genetic correlation based on close relatives reveals the extent to which shared genetic risks are explained by both common and rare variants. This estimate is unknown for breast and prostate cancer. Method: We estimated the relative risks, heritability, and genetic correlation of breast cancer and prostate cancer, based on the Minnesota Breast and Prostate Cancer Study, a family study of 141 families ascertained for breast cancer. Results: Heritability of breast cancer was 0.34 (95% credible interval: 0.23-0.49) and 0.65 (95% credible interval: 0.36-0.97) for prostate cancer, and the genetic correlation was 0.23. In terms of odds ratios, these values correspond to a 1.3 times higher odds of breast cancer among probands, given that the brother has prostate cancer. Conclusion: This study shows the inherent relation between prostate cancer and breast cancer; an incident of one in a family increases the risk of developing the other. The large difference between estimates of genetic correlation from distant and close relatives, if replicated, suggests that rare variants contribute to the shared genetic risk of breast and prostate cancer. However, the difference could steam from genotype-by-family effects shared between the two types of cancers. ©; 2021 The Author(s).
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| 3. |
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| 4. |
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| 5. |
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| 6. |
- Dahlqvist, Solbritt Rantapää, et al.
(author)
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Serum-protein markers in systemic lupus-erythematosus
- 1988
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In: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 38:1, s. 44-47
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Journal article (peer-reviewed)abstract
- Serum protein markers (α1-AT, Bf, C3, C4A, C4B, Hp and Tf) were studied in a series of 36 patients with systemic lupus erythematosus (SLE) and compared to normal blood donors. In agreement with the results of previous investigations a significant increase of complement C4 deficiency was found among the SLE patients. The relative risks for AQO and BQ0 homozygosity were 7.2 and 4.1, respectively. Simultaneous occurrence of AQO and BQ0 was found in three patients with a calculated relative risk of about 65. A significant increase of the haptoglobin type 2–2 (p < 0.05) was found among SLE patients. The remaining serum protein systems showed no statistically significant associations with SLE.
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| 7. |
- Dahlqvist, Solbritt Rantapää, et al.
(author)
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Transferrin c subtypes and rheumatoid-arthritis
- 1985
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In: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 35:5, s. 279-282
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Journal article (peer-reviewed)abstract
- Transferrin C subtypes were studied in patients with rheumatoid arthritis (RA) and controls. A significant association was found between the C2 type and RA. This association concerned mainly male patients and patients with a family history of polyarthritis. The results were discussed in relation to previous studies of the role of oxygen free radicals in the pathogenesis of RA and to a recently proposed hypothesis that the TfC2 gene confers an increased risk for cellular damage by hydroxyl radicals.
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| 8. |
- Darabi, H, et al.
(author)
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Single- and multi-locus association tests incorporating phenotype heterogeneity
- 2011
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In: Human heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 71:1, s. 11-22
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Journal article (peer-reviewed)abstract
- Taking disease subtypes into account when testing for an association between genetic factors and disease risk may help to identify specific aetiologic pathways. One way to assess a genetic association, whilst accounting for heterogeneity, is to use polytomous regression. This approach only allows heterogeneity to be considered in terms of a single categorical variable. In this article, we describe an alternative and novel test of association which incorporates multivariate measures of categorical and continuous heterogeneity. We describe both a single-SNP and a global multi-SNP test and use simulated data to demonstrate the power of the tests when genetic effects differ across disease subtypes. Applying the tests to the study of genetic variation in the oestrogen metabolic pathway and its association with breast cancer risk and prognosticators strengthened our understanding that the modulation of aromatase activity can influence the occurrence of tumours, and their grade and size, in postmenopausal women.
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| 9. |
- Forabosco, Paola, et al.
(author)
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Meta-Analysis of Genome-Wide Linkage Studies in Celiac Disease
- 2009
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In: HUMAN HEREDITY. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 68:4, s. 223-230
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Journal article (peer-reviewed)abstract
- <i>Objective:</i> A meta-analysis of genome-wide linkage studies allows us to summarize the extensive information available from family-based studies, as the field moves into genome-wide association studies. <i>Methods:</i> Here we apply the genome scan meta-analysis (GSMA) method, a rank-based, model-free approach, to combine results across eight independent genome-wide linkages performed on celiac disease (CD), including 554 families with over 1,500 affected individuals. We also investigate the agreement between signals we identified from this meta-analysis of linkage studies and those identified from genome-wide association analysis using a hypergeometric distribution. <i>Results:</i> Not surprisingly, the most significant result was obtained in the HLA region. Outside the HLA region, suggestive evidence for linkage was obtained at the telomeric region of chromosome 10 (10q26.12-qter; p = 0.00366), and on chromosome 8 (8q22.2-q24.21; p = 0.00491). Testing signals of association and linkage within bins showed no significant evidence for co-localization of results. <i>Conclusion:</i> This meta-analysis allowed us to pool the results from available genome-wide linkage studies and to identify novel regions potentially harboring predisposing genetic variation contributing to CD. This study also shows that linkage and association studies may identify different types of disease-predisposing variants.
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| 10. |
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| 11. |
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| 12. |
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| 13. |
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| 14. |
- Johansson, Anna, et al.
(author)
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Detecting Deletions in Families Affected by a Dominant Disease by Use of Marker Data.
- 2005
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In: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 60:1, s. 26-35
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Journal article (peer-reviewed)abstract
- A method of testing for whether inherited deletions are a cause of a single-locus dominant disease was derived, involving analysis of the marker segregation within the pedigree of a single family that segregates for the disease. It is shown that markers can be used to test deductively for the presence of an inherited deletion. The probabilities of confirming or rejecting the presence of a deletion in an arbitrary pedigree without inbreeding are then derived. The power of the test is shown to be limited in single trios but to increase rapidly as the size of the pedigree increases. For larger pedigrees, the probabilities of confirming or rejecting a deletion are higher than 0.9 for SNPs having a minor allele frequency greater than 0.4. The probabilities are higher using multiallelic markers such as microsatellites, reaching levels as high as 0.9 in even rather small pedigrees. In certain cases the test outcome is not deductive, a deletion being neither confirmed nor rejected. It is shown to still be possible then to employ a statistical test for the presence of a deletion by use of an a priori probability for a deletion.
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| 15. |
- Johansson, Anna M., et al.
(author)
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Detecting deletions in families affected by a dominant disease by use of marker data
- 2005
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In: Human Heredity. - : Karger. - 0001-5652 .- 1423-0062. ; 60:1, s. 26-35
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Journal article (peer-reviewed)abstract
- A method of testing for whether inherited deletions are a cause of a single-locus dominant disease was derived, involving analysis of the marker segregation within the pedigree of a single family that segregates for the disease. It is shown that markers can be used to test deductively for the presence of an inherited deletion. The probabilities of confirming or rejecting the presence of a deletion in an arbitrary pedigree without inbreeding are then derived. The power of the test is shown to be limited in single trios but to increase rapidly as the size of the pedigree increases. For larger pedigrees, the probabilities of confirming or rejecting a deletion are higher than 0.9 for SNPs having a minor allele frequency greater than 0.4. The probabilities are higher using multiallelic markers such as microsatellites, reaching levels as high as 0.9 in even rather small pedigrees. In certain cases the test outcome is not deductive, a deletion being neither confirmed nor rejected. It is shown to still be possible then to employ a statistical test for the presence of a deletion by use of an a priori probability for a deletion.
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| 16. |
- Kurbasic, Azra, et al.
(author)
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On computation of p-values in parametric linkage analysis
- 2004
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In: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 57:4, s. 207-219
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Journal article (peer-reviewed)abstract
- Parametric linkage analysis is usually used to find chromosomal regions linked to a disease (phenotype) that is described with a specific genetic model. This is done by investigating the relations between the disease and genetic markers, that is, well-characterized loci of known position with a clear Mendelian mode of inheritance. Assume we have found an interesting region on a chromosome that we suspect is linked to the disease. Then we want to test the hypothesis of no linkage versus the alternative one of linkage. As a measure we use the maximal lod score Z(max). It is well known that the maximal lod score has asymptotically a (2 ln 10)(-1) x (1/2 chi(2)(0) + 1/2 chi(2)(1)) distribution under the null hypothesis of no linkage when only one point ( one marker) on the chromosome is studied. In this paper, we show, both by simulations and theoretical arguments, that the null hypothesis distribution of Z(max) has no simple form when more than one marker is used ( multipoint analysis). In fact, the distribution of Z(max) depends on the number of families, their structure, the assumed genetic model, marker denseness, and marker informativity. This means that a constant critical limit of Z(max) leads to tests associated with different significance levels. Because of the above-mentioned problems, from the statistical point of view the maximal lod score should be supplemented by a p-value when results are reported. Copyright (C) 2004 S. Karger AG, Basel.
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| 17. |
- Lorenzo Bermejo, Justo, et al.
(author)
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Comparison of Six Statistics of Genetic Association Regarding Their Ability to Discriminate between Causal Variants and Genetically Linked Markers
- 2011
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In: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 72:2, s. 142-152
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Journal article (peer-reviewed)abstract
- Objectives: Genome-wide association (GWA) studies still rely on the common-disease common-variant hypothesis since the assumption is associated with increased power. In GWA studies, polymorphisms are genotyped and their association with disease is investigated. Most of the identified associations are indirect and reflect a shared inheritance of the genotyped markers and genetically linked causal variants. We have compared six statistics of genetic association regarding their ability to discriminate between markers and causal susceptibility variants, including a probability value (Pval) and a Bayes Factor (BF) based on logistic regression, and the attributable familial relative risk (FRR). Methods: We carried out a simulation-based sensitivity analysis to explore several conceivable scenarios. Theoretical results were illustrated by established causal associations with age-related macular degeneration and by using imputed data based on HapMap for a case-control study of breast cancer. Results: Our data indicate that a representation of genetic association by FRRs and BFs generally facilitates the distinction of causal variants. The FRR showed the best discriminative power under most investigated scenarios, but no single statistic outperformed the others in all situations. For example, rare moderate-to low-penetrance variants (allele frequency: 1%, dominant odds ratio: <= 2.0) seem to be best discriminated by BFs. Conclusions: Present results may help to fully utilize the data generated in association studies that take advantage of next generation sequencing and/or multiple imputation based on the 1000 Genomes Project. Copyright (C) 2011 S. Karger AG, Basel
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| 18. |
- McCarthy, JJ, et al.
(author)
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Polymorphisms of the HDL receptor gene associated with HDL cholesterol levels in diabetic kindred from three populations
- 2003
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In: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 55:4, s. 163-170
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Journal article (peer-reviewed)abstract
- Objective: We examined polymorphisms in the HDL receptor, SR-BI, for association with plasma HDL cholesterol levels. Methods: Study subjects, including 847 women and 725 men, were from families originally ascertained for type 2 diabetes from Finland, Sweden and Israel. Four common polymorphisms were examined in linear regression analysis: an exon 1 missense (EX1), exon 8 silent (EX8), intron 5 (IVS5) and intron 10 (IVS10) variants. Results: Genotype combinations for the three polymorphisms in linkage disequilibrium (IVS5, EX8 and IVS10) were found to be associated with HDL-C among women from the Israeli (p = 0.01) and Swedish (p = 0.06) populations. In Finnish women, the association was only apparent after taking into account effect modification by triglyceride levels (p = 0.04). One specific pattern of genotypes, denoted by presence of the IVS5_T and EX8_C alleles, and absence of the IVS10_G allele, was consistently associated with the lowest mean levels of HDL-C in women from all three populations. These same associations were not found in men. Conclusions: Polymorphic variation of the SR-BI gene may influence HDL-C levels and act in a sex-dependent manner. Copyright (C) 2003 S. Karger AG, Basel.
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| 19. |
- Menon, Ramkumar, et al.
(author)
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Ethnic differences in key candidate genes for spontaneous preterm birth: TNF-alpha and its receptors
- 2006
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In: HUMAN HEREDITY. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 62:2, s. 107-118
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Journal article (peer-reviewed)abstract
- <i>Objectives:</i> Spontaneous preterm birth (PTB) has a significant ethnic disparity with people of African descent having an almost 2-fold higher incidence than those of European descent in the United States. This disparity may be caused by differences in the distribution of genetic risk factors. The objective of this study is to examine genetic differences between African-Americans and European Americans for single nucleotide polymorphisms (SNPs) in candidate genes for PTB. <i>Methods:</i> We examined patterns of variation in 19 SNPs in 3 candidate genes for preterm birth: TNF-α, TNF-receptor 1 and TNF-receptor 2. Allele, genotype and haplotype frequencies were compared between African-Americans (AA) and European-Americans (EA) in cases and controls separately. Both maternal and fetal genotypes were studied, as it is unclear whether one or both of these are important in the etiology of PTB. <i>Results:</i> The vast majority of the SNPs differed significantly between ethnic groups, although there are only a few suggestive results comparing cases and controls within an ethnic group. For TNF-α, four of six SNPs; for TNF-R1, 5/6; and for TNF-R2, 6/7 showed significant differences between ethnic groups in either allele and/or genotype frequency. <i>Conclusions:</i> Our data demonstrate highly significant genetic differences between ethnic groups in genes that may play a role in the risk of PTB.
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| 20. |
- Moskvina, V, et al.
(author)
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Genetic differences between five European populations
- 2010
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In: Human heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 70:2, s. 141-149
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Journal article (peer-reviewed)abstract
- <i>Aims:</i> We sought to examine the magnitude of the differences in SNP allele frequencies between five European populations (Scotland, Ireland, Sweden, Bulgaria and Portugal) and to identify the loci with the greatest differences. <i>Methods:</i> We performed a population-based genome-wide association analysis with Affymetrix 6.0 and 5.0 arrays. We used a 4 degrees of freedom χ<sup>2</sup> test to determine the magnitude of stratification for each SNP. We then examined the genes within the most stratified regions, using a highly conservative cutoff of p < 10<sup>–45</sup>. <i>Results:</i> We found 40,593 SNPs which are genome-wide significantly (p ≤ 10<sup>–8</sup>) stratified between these populations. The largest differences clustered in gene ontology categories for immunity and pigmentation. Some of the top loci span genes that have already been reported as highly stratified: genes for hair color and pigmentation <i>(HERC2, EXOC2, IRF4)</i>, the LCT gene, genes involved in NAD metabolism, and in immunity (HLA and the Toll-like receptor genes TLR10, TLR1, TLR6). However, several genes have not previously been reported as stratified within European populations, indicating that they might also have provided selective advantages: several zinc finger genes, two genes involved in glutathione synthesis or function, and most intriguingly, <i>FOXP2</i>, implicated in speech development. <i>Conclusion:</i> Our analysis demonstrates that many SNPs show genome-wide significant differences within European populations and the magnitude of the differences correlate with the geographical distance. At least some of these differences are due to the selective advantage of polymorphisms within these loci.
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| 21. |
- Plunkett, Jevon, et al.
(author)
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Mother's Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth
- 2009
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In: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 68:3, s. 209-219
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Journal article (peer-reviewed)abstract
- Objective: While multiple lines of evidence suggest the importance of genetic contributors to risk of preterm birth, the nature of the genetic component has not been identified. We perform segregation analyses to identify the best fitting genetic model for gestational age, a quantitative proxy for preterm birth. Methods: Because either mother or infant can be considered the proband from a preterm delivery and there is evidence to suggest that genetic factors in either one or both may influence the trait, we performed segregation analysis for gestational age either attributed to the infant (infant's gestational age), or the mother (by averaging the gestational ages at which her children were delivered), using 96 multiplex preterm families. Results: These data lend further support to a genetic component contributing to birth timing since sporadic (i.e. no familial resemblance) and nontransmission (i.e. environmental factors alone contribute to gestational age) models are strongly rejected. Analyses of gestational age attributed to the infant support a model in which mother's genome and/or maternally-inherited genes acting in the fetus are largely responsible for birth timing, with a smaller contribution from the paternally-inherited alleles in the fetal genome. Conclusion: Our findings suggest that genetic influences on birth timing are important and likely complex. Copyright (C) 2009 S. Karger AG, Basel
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| 22. |
- Rödin Mörch, Patrik, et al.
(author)
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Small-scale population divergence is driven by local larval environment in a temperate amphibian
- 2021
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In: Human Heredity. - : Springer Science and Business Media LLC. - 0001-5652 .- 1423-0062. ; 126:2, s. 279-292
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Journal article (peer-reviewed)abstract
- Genomic variation within and among populations is shaped by the interplay between natural selection and the effects of genetic drift and gene flow. Adaptive divergence can be found in small-scale natural systems even when population sizes are small, and the potential for gene flow is high, suggesting that local environments exert selection pressures strong enough to counteract the opposing effects of drift and gene flow. Here, we investigated genomic differentiation in nine moor frog (Rana arvalis) populations in a small-scale network of local wetlands using 16,707 ddRAD-seq SNPs, relating levels of differentiation with local environments, as well as with properties of the surrounding landscape. We characterized population structure and differentiation, and partitioned the effects of geographic distance, local larval environment, and landscape features on total genomic variation. We also conducted gene-environment association studies using univariate and multivariate approaches. We found small-scale population structure corresponding to 6-8 clusters. Local larval environment was the most influential component explaining 2.3% of the total genetic variation followed by landscape features (1.8%) and geographic distance (0.8%), indicative of isolation-by-environment, -by-landscape, and -by-distance, respectively. We identified 1000 potential candidate SNPs putatively under divergent selection mediated by the local larval environment. The candidate SNPs were involved in, among other biological functions, immune system function and development. Our results suggest that small-scale environmental differences can exert selection pressures strong enough to counteract homogenizing effects of gene flow and drift in this small-scale system, leading to observable population differentiation.
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| 23. |
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| 24. |
- Stocks, Tanja, et al.
(author)
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TFAP2B-dietary protein and glycemic index interactions and weight maintenance after weight loss in the DiOGenes trial
- 2013
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In: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 75:2-4, s. 213-219
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Journal article (peer-reviewed)abstract
- Background: TFAP2B rs987237 is associated with obesity and has shown interaction with the dietary fat-to-carbohydrate ratio, which has an effect on weight loss. We investigated interactions between rs987237 and protein-to-carbohydrate ratio or glycemic index (GI) in relation to weight maintenance after weight loss.Methods: This study included 742 obese individuals from 8 European countries who participated in the Diet, Obesity, and Genes (DiOGenes) trial, lost >= 8% of their initial body weight during an 8-week low-calorie diet and were randomized to one of 5 ad libitum diets with a fixed energy percentage from fat: either low-protein/low-GI, low-protein/high-GI, high-protein/low-GI, or high-protein/high-GI diets, or a control diet for a 6-month weight maintenance period. Using linear regression analyses and additive genetic models, we investigated main and dietary interaction effects of TFAP2B rs987237 in relation to weight maintenance.Results: In total, 468 completers of the trial were genotyped for rs987237. High-protein diets were beneficial for weight maintenance in the AA genotype group (67% of participants), but in the AG and GG groups no differences were observed for low- or high-protein diets. On the high-protein diet, carriers of the obesity risk allele (G allele) regained 1.84 kg (95% CI: 0.02; 3.67, p = 0.047) more body weight per risk allele than individuals on a low-protein diet. There was no interaction effect between rs987237 and GI on weight maintenance.Conclusion: TFAP2B rs987237 and dietary protein/carbohydrate interacted to modify weight maintenance. Considering the carbohydrate proportion of the diet, the interaction was different from the previously reported rs987237-fat-to-carbohydrate ratio interaction for weight loss. Thus, TFAP2B-macronutrient interactions might diverge depending on the nutritional state.(C) 2013 S. Karger AG, Basel
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| 25. |
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| 26. |
- Wallmark, Anders, et al.
(author)
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Population genetics of the Malmö polymorphism of coagulation factor IX
- 1991
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In: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 41:6, s. 391-396
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Journal article (peer-reviewed)abstract
- The distribution of 1.198 Malmö alleles was examined in 822 men from 16 indigenous populations and 188 women from 7 of the ethnic groups. Subjects were from several European countries, the Mediterranean, East Asia, and the USA (Anglo- and African-Americans). The frequencies of the rarer (Malmö B) allele were approximately equal across Europe, the highest frequencies (0.36) being in the French and Anglo-Americans; no population was observed with clearly the highest frequency. They diminished slightly at moderate distances from Europe (Tunisia. Ethiopia) and greatly at longer distances (East Asia and West Africa). In Orientals, the frequencies ranged from 0.07 (East Indians) to 0.03 (the Chinese) and from 0.0 to 0.15 in African-Americans. Assuming selective neutrality, the data are consistent with the European origin of the ‘B’ allele when the population was small and outward spread.
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| 27. |
- Ängquist, Lars, et al.
(author)
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Strategies for Conditional Two-Locus Nonparametric Linkage Analysis.
- 2008
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In: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 66:3, s. 138-156
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Journal article (peer-reviewed)abstract
- In this article we deal with two-locus nonparametric linkage (NPL) analysis, mainly in the context of conditional analysis. This means that one incorporates single-locus analysis information through conditioning when performing a two-locus analysis. Here we describe different strategies for using this approach. Cox et al. [Nat Genet 1999;21:213-215] implemented this as follows: (i) Calculate the one-locus NPL process over the included genome region(s). (ii) Weight the individual pedigree NPL scores using a weighting function depending on the NPL scores for the corresponding pedigrees at speci fi c conditioning loci. We generalize this by conditioning with respect to the inheritance vector rather than the NPL score and by separating between the case of known (prede fi ned) and unknown (estimated) conditioning loci. In the latter case we choose conditioning locus, or loci, according to prede fi ned criteria. The most general approach results in a random number of selected loci, depending on the results from the previous one-locus analysis. Major topics in this article include discussions on optimal score functions with respect to the noncentrality parameter (NCP), and how to calculate adequate p values and perform power calculations. We also discuss issues related to multiple tests which arise from the two-step procedure with several conditioning loci as well as from the genome-wide tests. Copyright (c) 2008 S. Karger AG, Basel.
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| 28. |
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| 29. |
- Chester, Alan, et al.
(author)
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A new N-acetyl-beta-D-hexosaminidase disease with late onset of progressive neurological symptoms
- 1979
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In: Human Heredity. - 1423-0062. ; 29:2, s. 124-128
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Journal article (peer-reviewed)abstract
- Clinical data are presented on a 30-year-old male with normal early development (4-5 years) but subsequent progressive impairment of psychomotor functions. He has marked kyphoscoliosis and talipes calcaneo-valgus. The organs appear normal and the patient can walk unaided and feed himself although he does not recognize his parents. He has normal fundi oculi. Biochemical data show an absence of mucopolysacchariduria and very low but detectable levels of N-acetyl-beta-D-hexosaminidase in serum and leucocytes. The clinical symptoms are much milder than would normally be expected from such a profound enzyme deficiency (Sandhoff disease).
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