A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1

被引：27

作者：

Lemire, Mathieu ^{[1
]}

Qu, Conghui ^{[2
]}

Loo, Lenora W. M. ^{[3
]}

Zaidi, Syed H. E. ^{[1
]}

Wang, Hansong ^{[3
]}

Berndt, Sonja I. ^{[4
]}

Bezieau, Stephane ^{[5
,6
]}

Brenner, Hermann ^{[7
,8
,9
]}

Campbell, Peter T. ^{[10
]}

Chan, Andrew T. ^{[11
,12
]}

Chang-Claude, Jenny ^{[13
]}

Du, Mengmeng

Edlund, Christopher K. ^{[14
]}

Gallinger, Steven ^{[15
,16
]}

Haile, Robert W.

Harrison, Tabitha A. ^{[2
]}

Hoffmeister, Michael ^{[7
]}

Hopper, John L.

Hou, Lifang ^{[17
,18
]}

Hsu, Li ^{[2
,19
]}

Jacobs, Eric J. ^{[10
]}

Jenkins, Mark A.

Jeon, Jihyoun ^{[2
]}

Kuery, Sebastien ^{[5
]}

Li, Li ^{[20
,21
]}

Lindor, Noralane M. ^{[22
]}

Newcomb, Polly A. ^{[2
,23
]}

Potter, John D. ^{[2
,23
,24
]}

Rennert, Gad ^{[25
,26
,27
]}

Rudolph, Anja

Schoen, Robert E. ^{[28
]}

Schumacher, Fredrick R. ^{[14
]}

Seminara, Daniela ^{[29
]}

Severi, Gianluca ^{[30
,31
]}

Slattery, Martha L. ^{[32
]}

White, Emily ^{[2
,23
]}

Woods, Michael O. ^{[33
]}

Cotterchio, Michelle ^{[34
]}

Le Marchand, Loic ^{[3
]}

Casey, Graham ^{[14
]}

Gruber, Stephen B. ^{[14
,35
]}

Peters, Ulrike ^{[2
,36
]}

Hudson, Thomas J. ^{[1
,37
,38
]}

机构：

[1] Ontario Inst Canc Res, MaRS Ctr, Toronto, ON M5G 0A3, Canada

[2] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA

[3] Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA

[4] NCI, Occupat & Environm Epidemiol Branch, Bethesda, MD 20892 USA

[5] CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France

[6] Univ Nantes, Fac Med, EA 4273, Nantes, France

[7] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany

[8] German Canc Consortium DKTK, Heidelberg, Germany

[9] German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany

[10] Amer Canc Soc, Atlanta, GA 30329 USA

[11] Massachusetts Gen Hosp, Div Gastroenterol, Boston, MA 02114 USA

[12] Brigham & Womens Hosp, Channing Div Network Med, Boston, MA 02115 USA

[13] German Canc Res Ctr, Div Canc Epidemiol, Unit Genet Epidemiol, Heidelberg, Germany

[14] Univ So Calif, Norris Comprehens Canc Ctr, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA

[15] Samuel Lunenfeld Res Inst, Toronto, ON M5S 1X5, Canada

[16] Toronto Gen Hosp, Div Gen Surg, Toronto, ON M5G 2C4, Canada

[17] Northwestern Univ, Feinberg Sch Med, Dept Prevent Med, Evanston, IL USA

[18] Northwestern Univ, Feinberg Sch Med, Robert H Lurie Comprehens Canc Ctr, Evanston, IL USA

[19] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

[20] Case Western Reserve Univ, Case Comprehens Canc Ctr, Cleveland, OH 44106 USA

[21] Case Western Reserve Univ, Swetland Ctr Environm Hlth, Cleveland, OH 44106 USA

[22] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ USA

[23] Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA

[24] Massey Univ, Ctr Publ Hlth Res, Wellington, New Zealand

[25] Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel

[26] Natl Canc Control Ctr, Clalit Hlth Serv, Haifa, Israel

[27] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel

[28] Univ Pittsburgh, Med Ctr, Div Gastroenterol Hepatol & Nutr, Pittsburgh, PA USA

[29] NCI, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA

[30] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia

[31] Human Genet Fdn HuGeF, Turin, Italy

[32] Univ Utah, Hlth Sci Ctr, Dept Internal Med, Salt Lake City, UT USA

[33] Mem Univ Newfoundland, Discipline Genet, St John, NF A1B 3V6, Canada

[34] Univ Toronto, Canc Care Ontario, Toronto, ON, Canada

[35] Univ So Calif, Norris Comprehens Canc Ctr, Keck Sch Med, Dept Med, Los Angeles, CA USA

[36] Univ Washington, Sch Publ Hlth, Seattle, WA 98195 USA

[37] Univ Toronto, Dept Med Biophys, Toronto, ON M5S 1A1, Canada

[38] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada

来源：

HUMAN GENETICS | 2015年 / 134卷 / 11-12期

关键词：

SOCIETY-TASK-FORCE; SUSCEPTIBILITY LOCI; METAANALYSIS; SCAN; SURVEILLANCE; VARIANTS; DISEASE; STRESS; TUMORS;

D O I：

10.1007/s00439-015-1598-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Over 50 loci associated with colorectal cancer (CRC) have been uncovered by genome-wide association studies (GWAS). Identifying additional loci has the potential to help elucidate aspects of the underlying biological processes leading to better understanding of the pathogenesis of the disease. We re-evaluated a GWAS by excluding controls that have family history of CRC or personal history of colorectal polyps, as we hypothesized that their inclusion reduces power to detect associations. This is supported empirically and through simulations. Two-phase GWAS analysis was performed in a total of 16,517 cases and 14,487 controls. We identified rs17094983, a SNP associated with risk of CRC [p = 2.5 x 10(-10); odds ratio estimated by re-including all controls (OR) = 0.87, 95 % confidence interval (CI) 0.83-0.91; minor allele frequency (MAF) = 13 %]. Results were replicated in samples of African descent (1894 cases and 4703 controls; p = 0.01; OR = 0.86, 95 % CI 0.77-0.97; MAF = 16 %). Gene expression data in 195 colon adenocarcinomas and 59 normal colon tissues from two different studies revealed that this locus has genotypes that are associated with RTN1 (Reticulon 1) expression (p = 0.001), a protein-coding gene involved in survival and proliferation of cancer cells which is highly expressed in normal colon tissues but has significantly reduced expression in tumor cells (p = 1.3 x 10(-8)).

引用

页码：1249 / 1262

页数：14

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