Confirmation of Linkage to and Localization of Familial Colon Cancer Risk Haplotype on Chromosome 9q22

被引：35

作者：

Gray-McGuire, Courtney ^{[19
]}

Guda, Kishore ^{[4
,14
,17
]}

Adrianto, Indra ^{[19
]}

Lin, Chee Paul ^{[19
]}

Natale, Leanna ^{[17
]}

Potter, John D. ^{[13
]}

Newcomb, Polly ^{[13
]}

Poole, Elizabeth M. ^{[13
]}

Ulrich, Cornelia M. ^{[13
]}

Lindor, Noralane ^{[11
]}

Goode, Ellen L. ^{[12
]}

Fridley, Brooke L. ^{[12
]}

Jenkins, Robert

Le Marchand, Loic ^{[10
]}

Casey, Graham ^{[9
]}

Haile, Robert ^{[8
,11
]}

Hopper, John ^{[7
]}

Jenkins, Mark ^{[7
]}

Young, Joanne ^{[6
]}

Buchanan, Daniel ^{[6
]}

Gallinger, Steve ^{[5
]}

Adams, Mark ^{[18
]}

Lewis, Susan ^{[18
]}

Willis, Joseph ^{[3
,14
,15
]}

Elston, Robert ^{[14
,16
]}

Markowitz, Sanford D. ^{[2
,4
,14
,17
]}

Wiesner, Georgia L. ^{[1
,14
,17
,18
]}

机构：

[1] Univ Hosp Case Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USA

[2] Univ Hosp Case Med Ctr, Dept Med Hematol Oncol, Cleveland, OH 44106 USA

[3] Univ Hosp Case Med Ctr, Dept Pathol, Cleveland, OH 44106 USA

[4] Howard Hughes Med Inst, Chevy Chase, MD USA

[5] Toronto Gen Hosp, Samuel Lunenfeld Res Inst, Toronto, ON, Canada

[6] Queensland Inst Med Res, Div Genet & Populat Hlth, Brisbane, Qld 4006, Australia

[7] Univ Melbourne, Melbourne Sch Populat Hlth, Melbourne, Vic, Australia

[8] Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Dept Prevent Med, Los Angeles, CA 90033 USA

[9] Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Keck Sch Med, Los Angeles, CA 90033 USA

[10] Univ Hawaii, Canc Res Ctr Hawaii, Program Epidemiol, Honolulu, HI 96813 USA

[11] Mayo Clin, Lab Med & Pathol, Dept Med Genet, Rochester, MN USA

[12] Mayo Clin, Lab Med & Pathol, Dept Hlth Sci Res, Rochester, MN USA

[13] Fred Hutchinson Canc Res Ctr, Cancer Prevent Program, Seattle, WA 98104 USA

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

[15] Case Western Reserve Univ, Dept Pathol, Cleveland, OH 44106 USA

[16] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA

[17] Case Western Reserve Univ, Dept Med, Cleveland, OH 44106 USA

[18] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA

[19] Oklahoma Med Res Fdn, Dept Arthritis & Immunol, Oklahoma City, OK 73104 USA

来源：

CANCER RESEARCH | 2010年 / 70卷 / 13期

关键词：

GENOME-WIDE ASSOCIATION; NONPOLYPOSIS COLORECTAL-CANCER; SUSCEPTIBILITY LOCUS; KI-1; ANTIGEN; SCAN; 8Q24; KINDREDS; REGISTRY;

D O I：

10.1158/0008-5472.CAN-10-0188

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Genetic risk factors are important contributors to the development of colorectal cancer. Following the definition of a linkage signal at 9q22-31, we fine mapped this region in an independent collection of colon cancer families. We used a custom array of single-nucleotide polymorphisms (SNP) densely spaced across the candidate region, performing both single-SNP and moving-window association analyses to identify a colon neoplasia risk haplotype. Through this approach, we isolated the association effect to a five-SNP haplotype centered at 98.15 Mb on chromosome 9q. This haplotype is in strong linkage disequilibrium with the haplotype block containing HABP4 and may be a surrogate for the effect of this CD30 Ki-1 antigen. It is also in close proximity to GALNT12, also recently shown to be altered in colon tumors. We used a predictive modeling algorithm to show the contribution of this risk haplotype and surrounding candidate genes in distinguishing between colon cancer cases and healthy controls. The ability to replicate this finding, the strength of the haplotype association (odds ratio, 3.68), and the accuracy of our prediction model (similar to 60%) all strongly support the presence of a locus for familial colon cancer on chromosome 9q. Cancer Res; 70(13); 5409-18. (C) 2010 AACR.

引用

页码：5409 / 5418

页数：10

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