Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
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DOI：
10.1007/s00439-008-0535-3
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发表时间：
2008-09
期刊：
影响因子：
5.3
通讯作者：
Chanock SJ
中科院分区：
文献类型：
--
作者：
Yeager M;Xiao N;Hayes RB;Bouffard P;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
最近，全基因组关联研究已经确定了染色体8q24(128,100,000-128,700,000)的一段基因与乳腺癌、结肠癌和前列腺癌的风险有关。至少有三个8q24区域与前列腺癌风险独立相关；其中最着丝粒的区域似乎是人群特有的。由rs6983267和rs1447295标记的两个相邻但独立的基因座的单倍型已经在癌症遗传易感性标记项目(http://cgems.cancer.gov)，)中被确定，该项目对5,000多例前列腺癌病例和5,000名欧洲人的对照进行了基因分型。Rs6983267基因座也与结直肠癌密切相关。为了确定这两个区域常见单核苷酸多态(SNPs)的全面目录，我们使用Roche/454下一代测序技术对39例前列腺癌病例和40名欧洲对照进行了136kb(chr8：128,473,000-128,609,802)的重新测序分析。我们已经确定了该地区常见(MAF)和(1%)SNPs的全面目录，其中包括442个新SNPs，并确定了整个地区的连锁不平衡模式。我们的研究已经建立了该地区遗传变异的详细图谱，这将有助于在8q24中选择SNPs用于关联信号的精细定位和研究选定的常见变异的功能后果。本文的在线版本(doi：10.1007/s00439-008-0535-3)包含补充材料，授权用户可以使用。
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. The online version of this article (doi:10.1007/s00439-008-0535-3) contains supplementary material, which is available to authorized users.
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DOI：
10.1016/j.mrfmmm.2005.06.013
发表时间：
2005-12-30
影响因子：
2.3
作者：
Hayes, RB;Sigurdson, A;Berg, CD
通讯作者：
Berg, CD
DOI：
10.1016/s0197-2456(00)00097-0
发表时间：
2000-12-01
期刊：
CONTROLLED CLINICAL TRIALS
影响因子：
--
作者：
Gohagan, JK;Prorok, PC;Kramer, BS
通讯作者：
Kramer, BS
影响因子：
30.8
作者：
Zanke, Brent W.;Greenwood, Celia M. T.;Dunlop, Malcolm G.
通讯作者：
Dunlop, Malcolm G.
影响因子：
2.8
作者：
Camp, Nicola J.;Farnham, James M.;Cannon-Albright, Lisa A.
通讯作者：
Cannon-Albright, Lisa A.
影响因子：
11.2
作者：
Schumacher, Fredrick R.;Feigelson, Heather Spencer;Hunter, David J.
通讯作者：
Hunter, David J.