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全基因组关联研究确定ABO基因座中的变异与胰腺癌易感性相关。

Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.

作者信息

Amundadottir Laufey, Kraft Peter, Stolzenberg-Solomon Rachael Z, Fuchs Charles S, Petersen Gloria M, Arslan Alan A, Bueno-de-Mesquita H Bas, Gross Myron, Helzlsouer Kathy, Jacobs Eric J, LaCroix Andrea, Zheng Wei, Albanes Demetrius, Bamlet William, Berg Christine D, Berrino Franco, Bingham Sheila, Buring Julie E, Bracci Paige M, Canzian Federico, Clavel-Chapelon Françoise, Clipp Sandra, Cotterchio Michelle, de Andrade Mariza, Duell Eric J, Fox John W, Gallinger Steven, Gaziano J Michael, Giovannucci Edward L, Goggins Michael, González Carlos A, Hallmans Göran, Hankinson Susan E, Hassan Manal, Holly Elizabeth A, Hunter David J, Hutchinson Amy, Jackson Rebecca, Jacobs Kevin B, Jenab Mazda, Kaaks Rudolf, Klein Alison P, Kooperberg Charles, Kurtz Robert C, Li Donghui, Lynch Shannon M, Mandelson Margaret, McWilliams Robert R, Mendelsohn Julie B, Michaud Dominique S, Olson Sara H, Overvad Kim, Patel Alpa V, Peeters Petra H M, Rajkovic Aleksandar, Riboli Elio, Risch Harvey A, Shu Xiao-Ou, Thomas Gilles, Tobias Geoffrey S, Trichopoulos Dimitrios, Van Den Eeden Stephen K, Virtamo Jarmo, Wactawski-Wende Jean, Wolpin Brian M, Yu Herbert, Yu Kai, Zeleniuch-Jacquotte Anne, Chanock Stephen J, Hartge Patricia, Hoover Robert N

出版信息

Nat Genet. 2009 Sep;41(9):986-90. doi: 10.1038/ng.429. Epub 2009 Aug 2.

DOI:10.1038/ng.429
PMID:19648918
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2839871/
Abstract

We conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide. We genotyped 558,542 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus one hospital-based case-control study. We conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from eight case-control studies, adjusting for study, sex, ancestry and five principal components. We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO blood group gene. Our results are consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B.

摘要

我们针对胰腺癌开展了一项两阶段全基因组关联研究,胰腺癌是全球生存率最低的癌症之一。我们对来自12个前瞻性队列以及一项基于医院的病例对照研究的1896例胰腺癌患者和1939例对照进行了558,542个单核苷酸多态性(SNP)的基因分型。我们对这些群体以及另外来自8项病例对照研究的2457例患病个体和2654例对照进行了联合分析,并对研究、性别、血统和五个主要成分进行了校正。我们发现9号染色体长臂34区(9q34)上的一个位点与胰腺癌存在关联,该位点由单核苷酸多态性rs505922标记(合并P值 = 5.37×10⁻⁸;每等位基因相乘优势比为1.20;95%置信区间为1.12 - 1.28)。该单核苷酸多态性定位于ABO血型基因的第一个内含子。我们的结果与早期流行病学证据一致,表明O型血的人患胰腺癌的风险可能低于A型或B型血的人。

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Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.
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