Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers

被引：77

作者：

Yeager, Meredith ^{[1
,2
,3
]}

Xiao, Nianqing ^{[2
,3
]}

Hayes, Richard B. ^{[3
]}

Bouffard, Pascal ^{[4
]}

Desany, Brian ^{[4
]}

Burdett, Laura ^{[2
,3
]}

Orr, Nick ^{[5
]}

Matthews, Casey ^{[2
,3
]}

Qi, Liqun ^{[2
]}

Crenshaw, Andrew ^{[2
,3
]}

Markovic, Zdenek ^{[4
]}

Fredrikson, Karin M. ^{[8
]}

Jacobs, Kevin B. ^{[6
]}

Amundadottir, Laufey ^{[2
,3
]}

Jarvie, Thomas P. ^{[4
]}

Hunter, David J. ^{[3
,7
]}

Hoover, Robert ^{[3
]}

Thomas, Gilles ^{[3
]}

Harkins, Timothy T. ^{[8
]}

Chanock, Stephen J. ^{[3
,5
]}

机构：

[1] NCI, Adv Technol Ctr, Gaithersburg, MD 20877 USA

[2] NCI Frederick, SAIC Frederick Inc, Adv Technol Program, Core Genotyping Facil, Ft Detrick, MD 21702 USA

[3] NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[4] Life Sci 454, Branford, CT USA

[5] NCI, Pediat Oncol Branch, Ctr Canc Res, NIH,DHHS, Bethesda, MD 20892 USA

[6] Bioinformed Consulting Serv, Gaithersburg, MD USA

[7] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Program Mol & Genet Epidemiol, Boston, MA 02115 USA

[8] Roche Appl Sci, Indianapolis, IN USA

来源：

HUMAN GENETICS | 2008年 / 124卷 / 02期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1007/s00439-008-0535-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recently, genome-wide association studies have identified loci across a segment of chromosome 8q24 ( 128,100,000-128,700,000) associated with the risk of breast, colon and prostate cancers. At least three regions of 8q24 have been independently associated with prostate cancer risk; the most centromeric of which appears to be population specific. Haplotypes in two contiguous but independent loci, marked by rs6983267 and rs1447295, have been identified in the Cancer Genetic Markers of Susceptibility project (http://cgems.cancer.gov), which genotyped more than 5,000 prostate cancer cases and 5,000 controls of European origin. The rs6983267 locus is also strongly associated with colorectal cancer. To ascertain a comprehensive catalog of common single-nucleotide polymorphisms (SNPs) across the two regions, we conducted a resequence analysis of 136 kb (chr8: 128,473,000 128,609,802) using the Roche/454 next-generation sequencing technology in 39 prostate cancer cases and 40 controls of European origin. We have characterized a comprehensive catalog of common (MAF > 1%) SNPs within this region, including 442 novel SNPs and have determined the pattern of linkage disequilibrium across the region. Our study has generated a detailed map of genetic variation across the region, which should be useful for choosing SNPs for fine mapping of association signals in 8q24 and investigations of the functional consequences of select common variants.

引用

页码：161 / 170

页数：10

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