Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
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DOI：
10.1038/ncomms8138
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发表时间：
2015-07-07
影响因子：
16.6
通讯作者：
Peters U
中科院分区：
文献类型：
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作者：
Schumacher FR;Schmit SL;Jiao S;Edlund CK;Wang H;Zhang B;Hsu L;Huang SC;Fischer CP;Harju JF;Idos GE;Lejbkowicz F;Manion FJ;McDonnell K;McNeil CE;Melas M;Rennert HS;Shi W;Thomas DC;Van Den Berg DJ;Hutter CM;Aragaki AK;Butterbach K;Caan BJ;Carlson CS;Chanock SJ;Curtis KR;Fuchs CS;Gala M;Giovannucci EL;Gogarten SM;Hayes RB;Henderson B;Hunter DJ;Jackson RD;Kolonel LN;Kooperberg C;Küry S;LaCroix A;Laurie CC;Laurie CA;Lemire M;Levine D;Ma J;Makar KW;Qu C;Taverna D;Ulrich CM;Wu K;Kono S;West DW;Berndt SI;Bezieau S;Brenner H;Campbell PT;Chan AT;Chang-Claude J;Coetzee GA;Conti DV;Duggan D;Figueiredo JC;Fortini BK;Gallinger SJ;Gauderman WJ;Giles G;Green R;Haile R;Harrison TA;Hoffmeister M;Hopper JL;Hudson TJ;Jacobs E;Iwasaki M;Jee SH;Jenkins M;Jia WH;Joshi A;Li L;Lindor NM;Matsuo K;Moreno V;Mukherjee B;Newcomb PA;Potter JD;Raskin L;Rennert G;Rosse S;Severi G;Schoen RE;Seminara D;Shu XO;Slattery ML;Tsugane S;White E;Xiang YB;Zanke BW;Zheng W;Le Marchand L;Casey G;Gruber SB;Peters U
结直肠癌的遗传易感性是由罕见的致病性突变和常见的遗传变异引起的，这些变异会导致家族性风险。在这里，我们报告了一项两阶段关联研究的结果，其中包括18，299例结直肠癌和19，656例对照，并对来自两个亚洲财团的4，725例病例和9，969例对照中最具统计学意义的遗传位点进行了随访。我们描述了六个新的易感基因座，达到全基因组阈值P<5.0E-08。这些发现为结直肠癌的潜在生物学机制提供了额外的见解，并证明了基于大型财团的遗传流行病学研究的科学价值。
Genetic susceptibility to colorectal cancer is caused by rare pathogenic mutations and common genetic variants that contribute to familial risk. Here we report the results of a two-stage association study with 18,299 cases of colorectal cancer and 19,656 controls, with follow-up of the most statistically significant genetic loci in 4,725 cases and 9,969 controls from two Asian consortia. We describe six new susceptibility loci reaching a genome-wide threshold of P<5.0E-08. These findings provide additional insight into the underlying biological mechanisms of colorectal cancer and demonstrate the scientific value of large consortia-based genetic epidemiology studies.