Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
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DOI：
10.1002/ijc.31076
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发表时间：
2018-02-01
影响因子：
6.4
通讯作者：
Aaltonen LA
中科院分区：
文献类型：
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作者：
Tanskanen T;van den Berg L;Välimäki N;Aavikko M;Ness-Jensen E;Hveem K;Wettergren Y;Bexe Lindskog E;Tõnisson N;Metspalu A;Silander K;Orlando G;Law PJ;Tuupanen S;Gylfe AE;Hänninen UA;Cajuso T;Kondelin J;Sarin AP;Pukkala E;Jousilahti P;Salomaa V;Ripatti S;Palotie A;Järvinen H;Renkonen-Sinisalo L;Lepistö A;Böhm J;Mecklin JP;Al-Tassan NA;Palles C;Martin L;Barclay E;Tenesa A;Farrington SM;Timofeeva MN;Meyer BF;Wakil SM;Campbell H;Smith CG;Idziaszczyk S;Maughan TS;Kaplan R;Kerr R;Kerr D;Buchanan DD;Win AK;Hopper J;Jenkins MA;Newcomb PA;Gallinger S;Conti D;Schumacher FR;Casey G;Cheadle JP;Dunlop MG;Tomlinson IP;Houlston RS;Palin K;Aaltonen LA
全基因组关联研究已成功阐明结直肠癌的遗传基础，但遗传风险仍存在无法解释的变异性。为了识别新的风险变异并确认报告的关联，我们在芬兰人群的1，701例结直肠癌病例和14，082例无癌症对照中进行了全基因组关联研究。总共估算和测试了9，068，015种遗传变异，并在另外11，647例欧洲血统病例和12，356例对照中研究了30种有希望的变异。之前报道的单核苷酸多态性rs 992157（2 q35）与结直肠癌之间的关联是独立重复的（p=2.08×10 - 4; OR，1.14; 95%CI，1.06-1.23），并且在联合分析中具有全基因组显著性（p=1.50×10 - 9; OR，1.12; 95%CI，1.08-1.16）。芬兰人群中2 q35、6p21.2、8q23.3、8q24.21、10q22.3、10q24.2、11q13.4、11q23.1、14q22.2、15q13.3、18q21.1、20p12.3和20q13.33的变异与结直肠癌相关这些结果重复了多个基因座对结直肠癌风险的影响，并确定了芬兰人群分离株和远交人群之间共享的风险等位基因。
Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer, but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 colorectal cancer cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry. The previously reported association between the single-nucleotide polymorphism rs992157 (2q35) and colorectal cancer was independently replicated (p=2.08×10−4; OR, 1.14; 95% CI, 1.06–1.23), and it was genome-wide significant in combined analysis (p=1.50×10−9; OR, 1.12; 95% CI, 1.08–1.16). Variants at 2q35, 6p21.2, 8q23.3, 8q24.21, 10q22.3, 10q24.2, 11q13.4, 11q23.1, 14q22.2, 15q13.3, 18q21.1, 20p12.3, and 20q13.33 were associated with colorectal cancer in the Finnish population (false discovery rate <0.1), but new risk loci were not found. These results replicate the effects of multiple loci on the risk of colorectal cancer and identify shared risk alleles between the Finnish population isolate and outbred populations.
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影响因子：
16.6
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
通讯作者：
Peters U
DOI：
10.1016/j.cgh.2016.12.041
发表时间：
2017-08
期刊：
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
影响因子：
--
作者：
Graff RE;Möller S;Passarelli MN;Witte JS;Skytthe A;Christensen K;Tan Q;Adami HO;Czene K;Harris JR;Pukkala E;Kaprio J;Giovannucci EL;Mucci LA;Hjelmborg JB
通讯作者：
Hjelmborg JB
影响因子：
30.8
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
通讯作者：
Houlston RS
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
30.8
作者：
Loh, Po-Ru;Tucker, George;Bulik-Sullivan, Brendan K.;Vilhjalmsson, Bjarni J.;Finucane, Hilary K.;Salem, Rany M.;Chasman, Daniel I.;Ridker, Paul M.;Neale, Benjamin M.;Berger, Bonnie;Patterson, Nick;Price, Alkes L.
通讯作者：
Price, Alkes L.