Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
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DOI：
10.1038/ng.2293
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发表时间：
2012-05-27
期刊：
影响因子：
30.8
通讯作者：
Houlston RS
中科院分区：
文献类型：
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作者：
Dunlop MG;Dobbins SE;Farrington SM;Jones AM;Palles C;Whiffin N;Tenesa A;Spain S;Broderick P;Ooi LY;Domingo E;Smillie C;Henrion M;Frampton M;Martin L;Grimes G;Gorman M;Semple C;Ma YP;Barclay E;Prendergast J;Cazier JB;Olver B;Penegar S;Lubbe S;Chander I;Carvajal-Carmona LG;Ballereau S;Lloyd A;Vijayakrishnan J;Zgaga L;Rudan I;Theodoratou E;Colorectal Tumour Gene Identification (CORGI) Consortium;Starr JM;Deary I;Kirac I;Kovacević D;Aaltonen LA;Renkonen-Sinisalo L;Mecklin JP;Matsuda K;Nakamura Y;Okada Y;Gallinger S;Duggan DJ;Conti D;Newcomb P;Hopper J;Jenkins MA;Schumacher F;Casey G;Easton D;Shah M;Pharoah P;Lindblom A;Liu T;Swedish Low-Risk Colorectal Cancer Study Group;Smith CG;West H;Cheadle JP;COIN Collaborative Group;Midgley R;Kerr DJ;Campbell H;Tomlinson IP;Houlston RS
我们对五项全基因组关联研究进行了荟萃分析，以确定影响结直肠癌（CRC）风险的常见变异，这些研究包含8682例病例和9649例对照。在总计21096例病例和19555例对照的病例 - 对照集中进行了重复分析。我们在6p21（rs1321311，靠近CDKN1A；P = 1.14×10⁻¹⁰）、11q13.4（rs3824999，位于POLD3的内含子区域；P = 3.65×10⁻¹⁰）和Xp22.2（rs5934683，靠近SHROOM2；P = 7.30×10⁻¹⁰）处确定了三个新的CRC风险位点。这使得与CRC风险相关的独立位点数量达到20个，并进一步深入了解了CRC遗传易感性的遗传结构。
We performed a meta-analysis of five genome-wide association studies to identify common variants influencing colorectal cancer (CRC) risk comprising 8,682 cases and 9,649 controls. Replication analysis was performed in case-control sets totalling 21,096 cases and 19,555 controls. We identified three novel CRC risk loci at 6p21 (rs1321311, near CDKN1A; P=1.14×10−10), 11q13.4 (rs3824999, intronic to POLD3; P=3.65×10−10) and Xp22.2 (rs5934683, near SHROOM2; P=7.30×10−10) This brings to 20 the number of independent loci associated with CRC risk, and provides further insight into the genetic architecture of inherited susceptibility to CRC.