Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

被引：245

作者：

Jaeger, Emma ^{[1
]}

Webb, Emily ^{[2
]}

Howarth, Kimberley ^{[1
]}

Carvajal-Carmona, Luis ^{[1
,3
]}

Rowan, Andrew ^{[1
]}

Broderick, Peter ^{[2
]}

Walther, Axel ^{[1
]}

Spain, Sarah ^{[1
]}

Pittman, Alan ^{[2
]}

Kemp, Zoe ^{[1
]}

Sullivan, Kate

Heinimann, Karl ^{[4
]}

Lubbe, Steven ^{[2
]}

Domingo, Enric ^{[1
]}

Barclay, Ella ^{[1
]}

Martin, Lynn ^{[1
,5
,6
]}

Gorman, Maggie ^{[1
]}

Chandler, Ian ^{[2
]}

Vijayakrishnan, Jayaram ^{[2
]}

Wood, Wendy ^{[2
]}

Papaemmanuil, Elli ^{[2
]}

Penegar, Steven ^{[2
]}

Qureshi, Mobshra ^{[2
]}

Farrington, Susan ^{[7
,8
]}

Tenesa, Albert ^{[9
]}

Cazier, Jean-Baptiste ^{[10
]}

Kerr, David ^{[11
]}

Gray, Richard ^{[12
]}

Peto, Julian ^{[13
,14
,15
]}

Dunlop, Malcolm ^{[7
,8
]}

Campbell, Harry ^{[9
]}

Thomas, Huw ^{[16
]}

Houlston, Richard

Tomlinson, Ian ^{[1
,3
]}

机构：

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

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

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

[4] KBW Ctr Biomed, Dept Clin & Biol Sci, Res Grp Human Genet, CH-4058 Basel, Switzerland

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

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

[7] Univ Edinburgh, Canc Res Ctr, Colon Canc Genet Grp, Edinburgh EH4 2XU, Midlothian, Scotland

[8] Western Gen Hosp, UK Med Res Council, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[9] Univ Edinburgh, Edinburgh EH8 9AG, Midlothian, Scotland

[10] Canc Res UK, London WC2A 3PX, England

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

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

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

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

[15] Inst Canc Res, Sutton SM2 5NG, Surrey, England

[16] St Marks Hosp, Family Canc Clin & Imperial Coll, Harrow HA1 3UJ, Middx, England

来源：

NATURE GENETICS | 2008年 / 40卷 / 01期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng.2007.41

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on chromosome 15 containing SCG5 (also known as SGNE1), GREM1 and FMN1. We hypothesized that the CRAC1 locus harbored low-penetrance variants that increased CRC risk in the general population. In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P=4.44x10(-14)).

引用

页码：26 / 28

页数：3

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