A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

被引：412

作者：

Broderick, Peter

Carvajal-Carmona, Luis

Pittman, Alan M.

Webb, Emily

Howarth, Kimberley

Rowan, Andrew

Lubbe, Steven

Spain, Sarah

Sullivan, Kate

Fielding, Sarah

Jaeger, Emma

Vijayakrishnan, Jayaram

Kemp, Zoe

Gorman, Maggie

Chandler, Ian

Papaemmanuil, Elli

Penegar, Steven

Wood, Wendy

Sellick, Gabrielle

Qureshi, Mobshra

Teixeira, Ana

Domingo, Enric

Barclay, Ella

Martin, Lynn

Sieber, Oliver

Kerr, David

Gray, Richard

Peto, Julian

Cazier, Jean-Baptiste

Tomlinson, Ian

Houlston, Richard S. ^{[1
]}

机构：

[1] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England

[2] Canc Res UK, London Res Inst, Mol & Populat Genet Lab, London WC2A 3PX, England

[3] Univ London, Queen Mary Coll, Inst Canc, Barts & London Med Sch, London EC1M 6BQ, England

[4] St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England

[5] Birmingham Womens Hosp, Dept Med Genet, Birmingham B15 2TG, W Midlands, England

[6] Univ Oxford, Weatherall Inst Mol Med, Canc & Immunogenet Lab, Oxford OX3 9DS, England

[7] Univ Oxford, Radcliffe Infirm, Dept Clin Pharmacol, Oxford OX2 6HA, England

[8] Univ Birmingham, Birmingham Clin Trials Unit, Birmingham B15 2TT, W Midlands, England

[9] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[10] Univ London London Sch Hyg & Trop Med, Non Communicable Dis Epidemiol Unit, London WC1E 7HT, England

来源：

NATURE GENETICS | 2007年 / 39卷 / 11期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng.2007.18

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor ( 627 CRC, 313 advanced adenomas) and 965 controls. We evaluated selected SNPs in three replication sample sets ( 7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 ( involved in TGF-beta and Wnt signaling) associated with CRC. Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant ( P-trend 1.0 x 10(-12)).

引用

页码：1315 / 1317

页数：3

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