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

Meredith Yeager, Nianqing Xiao, Richard B. Hayes, P. Pascal Bouffard, Brian Desany, Laura Burdett, Nick Orr, Casey Matthews, Liqun Qi, Andrew Crenshaw, Zdenek Markovic, Karin M. Fredrikson, Kevin B. Jacobs, Laufey Amundadottir, Thomas P. Jarvie, David J. Hunter, Robert Hoover, Gilles Thomas, Timothy T. Harkins, Stephen J. Chanock

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)161-170
Number of pages10
JournalHuman Genetics
Volume124
Issue number2
DOIs
StatePublished - 2008
Externally publishedYes

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Human Chromosomes
Colonic Neoplasms
Single Nucleotide Polymorphism
Prostatic Neoplasms
Genome-Wide Association Study
Linkage Disequilibrium
Genetic Predisposition to Disease
Genetic Markers
Haplotypes
Colorectal Neoplasms
Chromosomes
Breast Neoplasms
Technology
Population
Neoplasms

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Yeager, M., Xiao, N., Hayes, R. B., Bouffard, P. P., Desany, B., Burdett, L., ... Chanock, S. J. (2008). Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. Human Genetics, 124(2), 161-170. https://doi.org/10.1007/s00439-008-0535-3

Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. / Yeager, Meredith; Xiao, Nianqing; Hayes, Richard B.; Bouffard, P. Pascal; Desany, Brian; Burdett, Laura; Orr, Nick; Matthews, Casey; Qi, Liqun; Crenshaw, Andrew; Markovic, Zdenek; Fredrikson, Karin M.; Jacobs, Kevin B.; Amundadottir, Laufey; Jarvie, Thomas P.; Hunter, David J.; Hoover, Robert; Thomas, Gilles; Harkins, Timothy T.; Chanock, Stephen J.

In: Human Genetics, Vol. 124, No. 2, 2008, p. 161-170.

Research output: Contribution to journalArticle

Yeager, M, Xiao, N, Hayes, RB, Bouffard, PP, Desany, B, Burdett, L, Orr, N, Matthews, C, Qi, L, Crenshaw, A, Markovic, Z, Fredrikson, KM, Jacobs, KB, Amundadottir, L, Jarvie, TP, Hunter, DJ, Hoover, R, Thomas, G, Harkins, TT & Chanock, SJ 2008, 'Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers', Human Genetics, vol. 124, no. 2, pp. 161-170. https://doi.org/10.1007/s00439-008-0535-3
Yeager, Meredith ; Xiao, Nianqing ; Hayes, Richard B. ; Bouffard, P. Pascal ; Desany, Brian ; Burdett, Laura ; Orr, Nick ; Matthews, Casey ; Qi, Liqun ; Crenshaw, Andrew ; Markovic, Zdenek ; Fredrikson, Karin M. ; Jacobs, Kevin B. ; Amundadottir, Laufey ; Jarvie, Thomas P. ; Hunter, David J. ; Hoover, Robert ; Thomas, Gilles ; Harkins, Timothy T. ; Chanock, Stephen J. / Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. In: Human Genetics. 2008 ; Vol. 124, No. 2. pp. 161-170.
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AU - Desany, Brian

AU - Burdett, Laura

AU - Orr, Nick

AU - Matthews, Casey

AU - Qi, Liqun

AU - Crenshaw, Andrew

AU - Markovic, Zdenek

AU - Fredrikson, Karin M.

AU - Jacobs, Kevin B.

AU - Amundadottir, Laufey

AU - Jarvie, Thomas P.

AU - Hunter, David J.

AU - Hoover, Robert

AU - Thomas, Gilles

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AU - Chanock, Stephen J.

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