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Sökning: WFRF:(Gorski B)

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  • Antoniou, Antonis C., et al. (författare)
  • Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
  • 2011
  • Ingår i: Human Molecular Genetics. - Oxford University Press. - 0964-6906. ; 20:16, s. 3304-3321
  • Tidskriftsartikel (refereegranskat)abstract
    • Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
  • Justice, A. E., et al. (författare)
  • Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
  • 2017
  • Ingår i: Nature Communications. - 2041-1723. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
  • Antoniou, Antonis C., et al. (författare)
  • A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
  • 2010
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1546-1718. ; 42:10, s. 885-892
  • Tidskriftsartikel (refereegranskat)abstract
    • Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).
  • Ade, P. A. R., et al. (författare)
  • XXIV. Cosmology from Sunyaev-Zeldovich cluster counts
  • 2016
  • Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 594
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We present cluster counts and corresponding cosmological constraints from the Planck full mission data set. Our catalogue consists of 439 clusters detected via their Sunyaev-Zeldovich (SZ) signal down to a signal-to-noise ratio of 6, and is more than a factor of 2 larger than the 2013 Planck cluster cosmology sample. The counts are consistent with those from 2013 and yield compatible constraints under the same modelling assumptions. Taking advantage of the larger catalogue, we extend our analysis to the two-dimensional distribution in redshift and signal-to-noise. We use mass estimates from two recent studies of gravitational lensing of background galaxies by Planck clusters to provide priors on the hydrostatic bias parameter, (1 - b). In addition, we use lensing of cosmic microwave background (CMB) temperature fluctuations by Planck clusters as an independent constraint on this parameter. These various calibrations imply constraints on the present-day amplitude of matter fluctuations in varying degrees of tension with those from the Planck analysis of primary fluctuations in the CMB; for the lowest estimated values of (1 b) the tension is mild, only a little over one standard deviation, while it remains substantial (3.7 sigma) for the largest estimated value. We also examine constraints on extensions to the base flat Lambda CDM model by combining the cluster and CMB constraints. The combination appears to favour non-minimal neutrino masses, but this possibility does little to relieve the overall tension because it simultaneously lowers the implied value of the Hubble parameter, thereby exacerbating the discrepancy with most current astrophysical estimates. Improving the precision of cluster mass calibrations from the current 10%-level to 1% would significantly strengthen these combined analyses and provide a stringent test of the base Lambda CDM model.</p>
  • Ramus, Susan J, et al. (författare)
  • Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
  • 2011
  • Ingår i: Journal of the National Cancer Institute. - Oxford University Press. - 1460-2105. ; 103:2, s. 105-116
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. Methods We genotyped rs3814113 in 10 029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. Results The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 × 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 × 10(-4)). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. Conclusion Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation.
  • Ade, P. A. R., et al. (författare)
  • Planck 2015 results XXVI. The Second Planck Catalogue of Compact Sources
  • 2016
  • Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 594
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The Second Planck Catalogue of Compact Sources is a list of discrete objects detected in single-frequency maps from the full duration of the Planck mission and supersedes previous versions. It consists of compact sources, both Galactic and extragalactic, detected over the entire sky. Compact sources detected in the lower frequency channels are assigned to the PCCS2, while at higher frequencies they are assigned to one of two subcatalogues, the PCCS2 or PCCS2E, depending on their location on the sky. The first of these (PCCS2) covers most of the sky and allows the user to produce subsamples at higher reliabilities than the target 80% integral reliability of the catalogue. The second ( PCCS2E) contains sources detected in sky regions where the diffuse emission makes it difficult to quantify the reliability of the detections. Both the PCCS2 and PCCS2E include polarization measurements, in the form of polarized flux densities, or upper limits, and orientation angles for all seven polarization-sensitive Planck channels. The improved data-processing of the full-mission maps and their reduced noise levels allow us to increase the number of objects in the catalogue, improving its completeness for the target 80% reliability as compared with the previous versions, the PCCS and the Early Release Compact Source Catalogue (ERCSC).</p>
  • Ade, P. A. R., et al. (författare)
  • Planck intermediate results XL. The Sunyaev-Zeldovich signal from the Virgo cluster
  • 2016
  • Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 596
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The Virgo cluster is the largest Sunyaev-Zeldovich (SZ) source in the sky, both in terms of angular size and total integrated flux. Planck's wide angular scale and frequency coverage, together with its high sensitivity, enable a detailed study of this big object through the SZ effect. Virgo is well resolved by Planck, showing an elongated structure that correlates well with the morphology observed from X-rays, but extends beyond the observed X-ray signal. We find good agreement between the SZ signal (or Compton parameter, y(c)) observed by Planck and the expected signal inferred from X-ray observations and simple analytical models. Owing to its proximity to us, the gas beyond the virial radius in Virgo can be studied with unprecedented sensitivity by integrating the SZ signal over tens of square degrees. We study the signal in the outskirts of Virgo and compare it with analytical models and a constrained simulation of the environment of Virgo. Planck data suggest that significant amounts of low-density plasma surround Virgo, out to twice the virial radius. We find the SZ signal in the outskirts of Virgo to be consistent with a simple model that extrapolates the inferred pressure at lower radii, while assuming that the temperature stays in the keV range beyond the virial radius. The observed signal is also consistent with simulations and points to a shallow pressure profile in the outskirts of the cluster. This reservoir of gas at large radii can be linked with the hottest phase of the elusive warm/hot intergalactic medium. Taking the lack of symmetry of Virgo into account, we find that a prolate model is favoured by the combination of SZ and X-ray data, in agreement with predictions. Finally, based on the combination of the same SZ and X-ray data, we constrain the total amount of gas in Virgo. Under the hypothesis that the abundance of baryons in Virgo is representative of the cosmic average, we also infer a distance for Virgo of approximately 18 Mpc, in good agreement with previous estimates.</p>
  • Couch, Fergus J, et al. (författare)
  • Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
  • 2012
  • Ingår i: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - American Association for Cancer Research. - 1538-7755. ; 21:4, s. 645-657
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). METHODS: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. RESULTS: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10(-3)). CONCLUSIONS: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers.Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev; ©2012 AACR.
  • Teumer, Alexander, et al. (författare)
  • Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria
  • 2019
  • Ingår i: Nature Communications. - Nature Publishing Group. - 2041-1723. ; 10:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated loci. Genetic correlation analyses and risk score associations in an independent electronic medical records database (n = 192,868) reveal connections with proteinuria, hyperlipidemia, gout, and hypertension. Fine-mapping and trans-Omics analyses with gene expression in 47 tissues and plasma protein levels implicate genes potentially operating through differential expression in kidney (including TGFB1, MUC1, PRKCI, and OAF), and allow coupling of UACR associations to altered plasma OAF concentrations. Knockdown of OAF and PRKCI orthologs in Drosophila nephrocytes reduces albumin endocytosis. Silencing fly PRKCI further impairs slit diaphragm formation. These results generate a priority list of genes and pathways for translational research to reduce albuminuria.
  • Adam, R., et al. (författare)
  • Planck 2015 results IX. Diffuse component separation : CMB maps
  • 2016
  • Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 594
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We present foreground-reduced cosmic microwave background (CMB) maps derived from the full Planck data set in both temperature and polarization. Compared to the corresponding Planck 2013 temperature sky maps, the total data volume is larger by a factor of 3.2 for frequencies between 30 and 70 GHz, and by 1.9 for frequencies between 100 and 857 GHz. In addition, systematic errors in the forms of temperature-topolarization leakage, analogue-to-digital conversion uncertainties, and very long time constant errors have been dramatically reduced, to the extent that the cosmological polarization signal may now be robustly recovered on angular scales l greater than or similar to 40. On the very largest scales, instrumental systematic residuals are still non-negligible compared to the expected cosmological signal, and modes with l &lt; 20 are accordingly suppressed in the current polarization maps by high-pass filtering. As in 2013, four different CMB component separation algorithms are applied to these observations, providing a measure of stability with respect to algorithmic and modelling choices. The resulting polarization maps have rms instrumental noise ranging between 0.21 and 0.27 mu K averaged over 55' pixels, and between 4.5 and 6.1 mu K averaged over 3.'4 pixels. The cosmological parameters derived from the analysis of temperature power spectra are in agreement at the 1 sigma level with the Planck 2015 likelihood. Unresolved mismatches between the noise properties of the data and simulations prevent a satisfactory description of the higher-order statistical properties of the polarization maps. Thus, the primary applications of these polarization maps are those that do not require massive simulations for accurate estimation of uncertainties, for instance estimation of cross-spectra and cross-correlations, or stacking analyses. However, the amplitude of primordial non-Gaussianity is consistent with zero within 2 sigma for all local, equilateral, and orthogonal configurations of the bispectrum, including for polarization E-modes. Moreover, excellent agreement is found regarding the lensing B-mode power spectrum, both internally among the various component separation codes and with the best-fit Planck 2015 Lambda cold dark matter model.</p>
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