A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
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DOI：
10.1038/ng.2437
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发表时间：
2012-12
期刊：
影响因子：
30.8
通讯作者：
Stefansson, Kari
中科院分区：
文献类型：
--
作者：
Gudmundsson, Julius;Sulem, Patrick;Gudbjartsson, Daniel F.;Masson, Gisli;Agnarsson, Bjarni A.;Benediktsdottir, Kristrun R.;Sigurdsson, Asgeir;Magnusson, Olafur Th;Gudjonsson, Sigurjon A.;Magnusdottir, Droplaug N.;Johannsdottir, Hrefna;Helgadottir, Hafdis Th;Stacey, Simon N.;Jonasdottir, Adalbjorg;Olafsdottir, Stefania B.;Thorleifsson, Gudmar;Jonasson, Jon G.;Tryggvadottir, Laufey;Navarrete, Sebastian;Fuertes, Fernando;Helfand, Brian T.;Hu, Qiaoyan;Csiki, Irma E.;Mates, Ioan N.;Jinga, Viorel;Aben, Katja K. H.;van Oort, Inge M.;Vermeulen, Sita H.;Donovan, Jenny L.;Hamdy, Freddy C.;Ng, Chi-Fai;Chiu, Peter K. F.;Lau, Kin-Mang;Ng, Maggie C. Y.;Gulcher, Jeffrey R.;Kong, Augustine;Catalona, William J.;Mayordomo, Jose I.;Einarsson, Gudmundur V.;Barkardottir, Rosa B.;Jonsson, Eirikur;Mates, Dana;Neal, David E.;Kiemeney, Lambertus A.;Thorsteinsdottir, Unnur;Rafnar, Thorunn;Stefansson, Kari
在西方国家，前列腺癌是男性最常见的癌症，也是男性癌症相关死亡的主要原因之一。几个全基因组关联研究已经产生了许多常见的变异，赋予前列腺癌的风险。在本研究中，我们分析了1,795名冰岛人的全基因组测序发现的3250万个变异。在欧洲人群中发现了一个与前列腺癌相关的变异：rs 188140481 [A]（OR = 2.90，Pcomb = 6.2×10−34），位于8 q24，平均风险等位基因控制频率为0.54%。该变异与先前报道的8 q24上的风险变异只有非常弱的相关性（r2 ≤ 0.06），并且在对所有这些变异进行调整后仍然具有显著性。rs 188140481 [A]携带者被诊断为前列腺癌的年龄比非携带者小1.26岁（P = 0.0059）。我们还报告了先前描述的HOXB 13突变（rs 138213197 [T]）的结果，证实它是欧洲各地人群中前列腺癌的风险变体。
Western countries, prostate cancer is the most prevalent cancer of men, and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. In the present study we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. One variant was found to be associated with prostate cancer in European populations: rs188140481[A] (OR = 2.90, Pcomb = 6.2×10−34) located on 8q24, with an average risk allele control frequency of 0.54%. This variant is only very weakly correlated (r2 ≤ 0.06) with previously reported risk variants on 8q24, and remains significant after adjustment for all of them. Carriers of rs188140481[A] were diagnosed with prostate cancer 1.26 years younger than non-carriers (P = 0.0059). We also report results for the previously described HOXB13 mutation (rs138213197[T]), confirming it as prostate cancer risk variant in populations from all over Europe.
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影响因子：
30.8
作者：
Kiemeney LA;Thorlacius S;Sulem P;Geller F;Aben KK;Stacey SN;Gudmundsson J;Jakobsdottir M;Bergthorsson JT;Sigurdsson A;Blondal T;Witjes JA;Vermeulen SH;Hulsbergen-van de Kaa CA;Swinkels DW;Ploeg M;Cornel EB;Vergunst H;Thorgeirsson TE;Gudbjartsson D;Gudjonsson SA;Thorleifsson G;Kristinsson KT;Mouy M;Snorradottir S;Placidi D;Campagna M;Arici C;Koppova K;Gurzau E;Rudnai P;Kellen E;Polidoro S;Guarrera S;Sacerdote C;Sanchez M;Saez B;Valdivia G;Ryk C;de Verdier P;Lindblom A;Golka K;Bishop DT;Knowles MA;Nikulasson S;Petursdottir V;Jonsson E;Geirsson G;Kristjansson B;Mayordomo JI;Steineck G;Porru S;Buntinx F;Zeegers MP;Fletcher T;Kumar R;Matullo G;Vineis P;Kiltie AE;Gulcher JR;Thorsteinsdottir U;Kong A;Rafnar T;Stefansson K
通讯作者：
Stefansson K
DOI：
10.1056/nejmoa1110000
发表时间：
2012-01-12
期刊：
The New England journal of medicine
影响因子：
--
作者：
Ewing CM;Ray AM;Lange EM;Zuhlke KA;Robbins CM;Tembe WD;Wiley KE;Isaacs SD;Johng D;Wang Y;Bizon C;Yan G;Gielzak M;Partin AW;Shanmugam V;Izatt T;Sinari S;Craig DW;Zheng SL;Walsh PC;Montie JE;Xu J;Carpten JD;Isaacs WB;Cooney KA
通讯作者：
Cooney KA
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：
30.8
作者：
Yeager, Meredith;Chatterjee, Nilanjan;Ciampa, Julia;Jacobs, Kevin B.;Gonzalez-Bosquet, Jesus;Hayes, Richard B.;Kraft, Peter;Wacholder, Sholom;Orr, Nick;Berndt, Sonja;Yu, Kai;Hutchinson, Amy;Wang, Zhaoming;Amundadottir, Laufey;Feigelson, Heather Spencer;Thun, Michael J.;Diver, W. Ryan;Albanes, Demetrius;Virtamo, Jarmo;Weinstein, Stephanie;Schumacher, Fredrick R.;Cancel-Tassin, Geraldine;Cussenot, Olivier;Valeri, Antoine;Andriole, Gerald L.;Crawford, E. David;Haiman, Christopher A.;Henderson, Brian;Kolonel, Laurence;Le Marchand, Loic;Siddiq, Afshan;Riboli, Elio;Key, Timothy J.;Kaaks, Rudolf;Isaacs, William;Isaacs, Sarah;Wiley, Kathleen E.;Gronberg, Henrik;Wiklund, Fredrik;Stattin, Par;Xu, Jianfeng;Zheng, S. Lilly;Sun, Jielin;Vatten, Lars J.;Hveem, Kristian;Kumle, Merethe;Tucker, Margaret;Gerhard, Daniela S.;Hoover, Robert N.;Fraumeni, Joseph F., Jr.;Hunter, David J.;Thomas, Gilles;Chanock, Stephen J.
通讯作者：
Chanock, Stephen J.
影响因子：
30.8
作者：
Haiman, Christopher A.;Patterson, Nick;Reich, David
通讯作者：
Reich, David