排序方式: 共有53条查询结果,搜索用时 15 毫秒
41.
Ghoussaini M Fletcher O Michailidou K Turnbull C Schmidt MK Dicks E Dennis J Wang Q Humphreys MK Luccarini C Baynes C Conroy D Maranian M Ahmed S Driver K Johnson N Orr N dos Santos Silva I Waisfisz Q Meijers-Heijboer H Uitterlinden AG Rivadeneira F;Netherlands Collaborative Group on Hereditary Breast Ovarian Cancer 《Nature genetics》2012,44(3):312-318
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth. 相似文献
42.
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 总被引:16,自引:0,他引:16
Hampe J Franke A Rosenstiel P Till A Teuber M Huse K Albrecht M Mayr G De La Vega FM Briggs J Günther S Prescott NJ Onnie CM Häsler R Sipos B Fölsch UR Lengauer T Platzer M Mathew CG Krawczak M Schreiber S 《Nature genetics》2007,39(2):207-211
We performed a genome-wide association study of 19,779 nonsynonymous SNPs in 735 individuals with Crohn disease and 368 controls. A total of 7,159 of these SNPs were informative. We followed up on all 72 SNPs with P 0.4), these data suggest that the underlying biological process may be specific to Crohn disease. 相似文献
43.
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease 总被引:6,自引:0,他引:6
Buch S Schafmayer C Völzke H Becker C Franke A von Eller-Eberstein H Kluck C Bässmann I Brosch M Lammert F Miquel JF Nervi F Wittig M Rosskopf D Timm B Höll C Seeger M ElSharawy A Lu T Egberts J Fändrich F Fölsch UR Krawczak M Schreiber S Nürnberg P Tepel J Hampe J 《Nature genetics》2007,39(8):995-999
With an overall prevalence of 10-20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries. We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in ABCG8 (allelic P value P(CCA) = 4.1 x 10(-9)), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (P = 2.8 x 10(-7)) and 167 Chilean subjects (P = 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8-2.6, P = 1.4 x 10(-14)) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile. 相似文献
44.
Eva C. Schwarz Christina Backes Arne Knörck Nicole Ludwig Petra Leidinger Cora Hoxha Gertrud Schwär Thomas Grossmann Sabine C. Müller Martin Hart Jan Haas Valentina Galata Isabelle Müller Tobias Fehlmann Hermann Eichler Andre Franke Benjamin Meder Eckart Meese Markus Hoth Andreas Keller 《Cellular and molecular life sciences : CMLS》2016,73(16):3169-3181
45.
The Predictive Power of Survey‐Based Exchange Rate Forecasts: Is there a Role for Dispersion?
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Previous research has shown that the consensus of individual exchange rate forecasts performs no better than many commonly used forecasting models in predicting future exchange rates. Studies on equity and bond markets have explored the effects of dispersion in forecasts on the predictive power of forecasts; however, no earlier paper has investigated such effects in the context of the foreign exchange market. This study explores the role of consensus forecast dispersion as a factor leading to bias and anchoring in exchange rate forecasts. Our analysis of five currency pairs reveals that consensus forecasts mostly appear to be unbiased predictors of exchange rates in the long run, but most are unable to pass tests for short‐run unbiasedness. In three of the five currencies examined it appears that forecasters should take greater account of reported forecast dispersion. Copyright © 2015 John Wiley & Sons, Ltd. 相似文献
46.
Freilinger T Anttila V de Vries B Malik R Kallela M Terwindt GM Pozo-Rosich P Winsvold B Nyholt DR van Oosterhout WP Artto V Todt U Hämäläinen E Fernández-Morales J Louter MA Kaunisto MA Schoenen J Raitakari O Lehtimäki T Vila-Pueyo M Göbel H Wichmann E Sintas C Uitterlinden AG Hofman A Rivadeneira F Heinze A Tronvik E van Duijn CM Kaprio J Cormand B Wessman M Frants RR Meitinger T Müller-Myhsok B Zwart JA Färkkilä M Macaya A Ferrari MD Kubisch C Palotie A Dichgans M 《Nature genetics》2012,44(7):777-782
Migraine without aura is the most common form of migraine, characterized by recurrent disabling headache and associated autonomic symptoms. To identify common genetic variants associated with this migraine type, we analyzed genome-wide association data of 2,326 clinic-based German and Dutch individuals with migraine without aura and 4,580 population-matched controls. We selected SNPs from 12 loci with 2 or more SNPs associated with P values of <1 × 10(-5) for replication testing in 2,508 individuals with migraine without aura and 2,652 controls. SNPs at two of these loci showed convincing replication: at 1q22 (in MEF2D; replication P = 4.9 × 10(-4); combined P = 7.06 × 10(-11)) and at 3p24 (near TGFBR2; replication P = 1.0 × 10(-4); combined P = 1.17 × 10(-9)). In addition, SNPs at the PHACTR1 and ASTN2 loci showed suggestive evidence of replication (P = 0.01; combined P = 3.20 × 10(-8) and P = 0.02; combined P = 3.86 × 10(-8), respectively). We also replicated associations at two previously reported migraine loci in or near TRPM8 and LRP1. This study identifies the first susceptibility loci for migraine without aura, thereby expanding our knowledge of this debilitating neurological disorder. 相似文献
47.
Choudhury AR Ju Z Djojosubroto MW Schienke A Lechel A Schaetzlein S Jiang H Stepczynska A Wang C Buer J Lee HW von Zglinicki T Ganser A Schirmacher P Nakauchi H Rudolph KL 《Nature genetics》2007,39(1):99-105
Telomere shortening limits the proliferative lifespan of human cells by activation of DNA damage pathways, including upregulation of the cell cycle inhibitor p21 (encoded by Cdkn1a, also known as Cip1 and Waf1)) (refs. 1-5). Telomere shortening in response to mutation of the gene encoding telomerase is associated with impaired organ maintenance and shortened lifespan in humans and in mice. The in vivo function of p21 in the context of telomere dysfunction is unknown. Here we show that deletion of p21 prolongs the lifespan of telomerase-deficient mice with dysfunctional telomeres. p21 deletion improved hematolymphopoiesis and the maintenance of intestinal epithelia without rescuing telomere function. Moreover, deletion of p21 rescued proliferation of intestinal progenitor cells and improved the repopulation capacity and self-renewal of hematopoietic stem cells from mice with dysfunctional telomeres. In these mice, apoptotic responses remained intact, and p21 deletion did not accelerate chromosomal instability or cancer formation. This study provides experimental evidence that telomere dysfunction induces p21-dependent checkpoints in vivo that can limit longevity at the organismal level. 相似文献
48.
Ioannidis JP Gwinn M Little J Higgins JP Bernstein JL Boffetta P Bondy M Bray MS Brenchley PE Buffler PA Casas JP Chokkalingam A Danesh J Smith GD Dolan S Duncan R Gruis NA Hartge P Hashibe M Hunter DJ Jarvelin MR Malmer B Maraganore DM Newton-Bishop JA O'Brien TR Petersen G Riboli E Salanti G Seminara D Smeeth L Taioli E Timpson N Uitterlinden AG Vineis P Wareham N Winn DM Zimmern R Khoury MJ;Human Genome Epidemiology Network the Network of Investigator Networks 《Nature genetics》2006,38(1):3-5
Networks of investigators have begun sharing best practices, tools and methods for analysis of associations between genetic variation and common diseases. A Network of Investigator Networks has been set up to drive the process, sponsored by the Human Genome Epidemiology Network. A workshop is planned to develop consensus guidelines for reporting results of genetic association studies. Published literature databases will be integrated, and unpublished data, including 'negative' studies, will be captured by online journals and through investigator networks. Systematic reviews will be expanded to include more meta-analyses of individual-level data and prospective meta-analyses. Field synopses will offer regularly updated overviews. 相似文献
49.
Abbot P Abe J Alcock J Alizon S Alpedrinha JA Andersson M Andre JB van Baalen M Balloux F Balshine S Barton N Beukeboom LW Biernaskie JM Bilde T Borgia G Breed M Brown S Bshary R Buckling A Burley NT Burton-Chellew MN Cant MA Chapuisat M Charnov EL Clutton-Brock T Cockburn A Cole BJ Colegrave N Cosmides L Couzin ID Coyne JA Creel S Crespi B Curry RL Dall SR Day T Dickinson JL Dugatkin LA El Mouden C Emlen ST Evans J Ferriere R Field J Foitzik S Foster K Foster WA Fox CW Gadau J Gandon S 《Nature》2011,471(7339):E1-4; author reply E9-10
Arising from M. A. Nowak, C. E. Tarnita & E. O. Wilson 466, 1057-1062 (2010); Nowak et al. reply. Nowak et al. argue that inclusive fitness theory has been of little value in explaining the natural world, and that it has led to negligible progress in explaining the evolution of eusociality. However, we believe that their arguments are based upon a misunderstanding of evolutionary theory and a misrepresentation of the empirical literature. We will focus our comments on three general issues. 相似文献
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