Genome-wide association study of breast cancer in the Japanese population.
Genome-wide association study of breast cancer in the Japanese population.
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DOI：
10.1371/journal.pone.0076463
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Katagiri T
中科院分区：
文献类型：
--
作者：
Low SK;Takahashi A;Ashikawa K;Inazawa J;Miki Y;Kubo M;Nakamura Y;Katagiri T
乳腺癌是包括日本在内的全世界女性中最常见的恶性肿瘤。几项研究已经确定了与乳腺癌风险相关的常见遗传变异。由于复杂的连锁不平衡结构和不同人群中的不同环境暴露，识别每个人群中与乳腺癌相关的变异是至关重要的，这将有助于更好地理解乳腺癌的发生。在这项研究中，我们对2，642例病例和2，099例未受影响的女性对照进行了全基因组关联研究（GWAS）以及全基因组插补。我们进一步检查了13个暗示性位点，（P<1.0×10−5）使用2，885例病例和3，395例对照的独立样本集，并成功验证了两个先前报道的基因座，rs 2981578（合并P值为1.31×10−12，OR = 1.23; 95% CI = 1.16-.30），染色体10 q26（FGFR 2），rs3803662（合并P值为2.79×10−11，OR = 1.21; 95% CI = 1.15-.28）和rs 12922061（合并P值为3.97×10−10，OR = 1.23; 95% CI = 1.15-.31）（TOX 3-LOC 643714）。 基于东亚人群中三个显著相关的变异和两个先前报道的乳腺癌相关基因座的加权遗传风险评分显示，携带第5类中风险最高的等位基因的个体在日本人群中患乳腺癌的风险比携带参考第1类中风险最低的等位基因的个体高2.2倍。虽然我们无法确定与乳腺癌相关的其他基因座，但我们的研究使用了迄今为止报道的最大样本量之一，并提供了代表日本人群的遗传状态。进一步的本地和国际合作研究对于识别其他遗传变异至关重要，这些变异可能会导致更好，更准确的乳腺癌预测。
Breast cancer is the most common malignancy among women in worldwide including Japan. Several studies have identified common genetic variants to be associated with the risk of breast cancer. Due to the complex linkage disequilibrium structure and various environmental exposures in different populations, it is essential to identify variants associated with breast cancer in each population, which subsequently facilitate the better understanding of mammary carcinogenesis. In this study, we conducted a genome-wide association study (GWAS) as well as whole-genome imputation with 2,642 cases and 2,099 unaffected female controls. We further examined 13 suggestive loci (P<1.0×10−5) using an independent sample set of 2,885 cases and 3,395 controls and successfully validated two previously-reported loci, rs2981578 (combined P-value of 1.31×10−12, OR = 1.23; 95% CI = 1.16–.30) on chromosome 10q26 (FGFR2), rs3803662 (combined P-value of 2.79×10−11, OR = 1.21; 95% CI = 1.15–.28) and rs12922061 (combined P-value of 3.97×10−10, OR = 1.23; 95% CI = 1.15–.31) on chromosome 16q12 (TOX3-LOC643714). Weighted genetic risk score on the basis of three significantly associated variants and two previously reported breast cancer associated loci in East Asian population revealed that individuals who carry the most risk alleles in category 5 have 2.2 times higher risk of developing breast cancer in the Japanese population than those who carry the least risk alleles in reference category 1. Although we could not identify additional loci associated with breast cancer, our study utilized one of the largest sample sizes reported to date, and provided genetic status that represent the Japanese population. Further local and international collaborative study is essential to identify additional genetic variants that could lead to a better, accurate prediction for breast cancer.
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影响因子：
8.8
作者：
Beral, V;Hamajima, N;Hirose, K;Rohan, T;Calle, EE;Heath, CW;Coates, RJ;Liff, JM;Talamini, R;Chantarakul, N;Koetsawang, S;Rachawat, D;Morabia, A;Schuman, L;Stewart, W;Szklo, M;Bain, C;Schofield, F;Siskind, V;Band, P;Coldman, AJ;Gallagher, RP;Hislop, TG;Yang, P;Kolonel, LM;Nomura, AMY;Hu, J;Johnson, KC;Mao, Y;De Sanjose, S;Lee, N;Marchbanks, P;Ory, HW;Peterson, HB;Wilson, HG;Wingo, PA;Ebeling, K;Kunde, D;Nishan, P;Hopper, JL;Colditz, G;Gajalakshmi, V;Martin, N;Pardthaisong, T;Solpisornkosol, S;Theetranont, C;Boosiri, B;Chutivongse, S;Jimakorn, P;Virutamasen, P;Wongsrichanalai, C;Ewertz, M;Adami, HO;Bergkvist, L;Magnusson, C;Persson, I;Chang-Claude, J;Paul, C;Skegg, DCG;Spears, GFS;Boyle, P;Evstifeeva, T;Daling, JR;Hutchinson, WB;Malone, K;Noonan, EA;Stanford, JL;Thomas, DB;Weiss, NS;White, E;Andrieu, N;Brêmond, A;Clavel, F;Gairard, B;Lansac, J;Piana, L;Renaud, R;Izquierdo, A;Viladiu, P;Cuevas, HR;Ontiveros, P;Palet, A;Salazar, SB;Arsitizabal, N;Cuadros, A;Tryggvadottir, L;Tulinius, H;Bachelot, A;Lê, MG;Peto, J;Franceschi, S;Lubin, F;Modan, B;Ron, E;Wax, Y;Friedman, GD;Hiatt, RA;Levi, F;Bishop, T;Kosmelj, K;Primic-Zakelj, M;Ravnihar, B;Stare, J;Beeson, WL;Fraser, G;Bulbrook, RD;Cuzick, J;Duffy, SW;Fentiman, IS;Hayward, JL;Wang, DY;McMichael, AJ;McPherson, K;Hanson, RL;Leske, MC;Mahoney, MC;Nasca, PC;Varma, AO;Weinstein, AL;Moller, TR;Olsson, H;Ranstam, J;Goldbohm, RA;van den Brandt, PA;Apelo, RA;Baens, J;de la Cruz, JR;Javier, B;Lacaya, LB;Ngelangel, CA;La Vecchia, C;Negri, E;Marubini, E;Ferraroni, M;Gerber, M;Richardson, S;Segala, C;Gatei, D;Kenya, P;Kungu, A;Mati, JG;Brinton, LA;Hoover, R;Schairer, C;Spirtas, R;Lee, HP;Rookus, MA;van Leeuwen, FE;Schoenberg, JA;McCredie, M;Gammon, MD;Clarke, EA;Jones, L;Neil, A;Vessey, M;Yeates, D;Appleby, P;Banks, E;Bull, D;Crossley, B;Goodill, A;Green, J;Hermon, C;Key, T;Langston, N;Lewis, C;Reeves, G;Collins, R;Doll, R;Peto, R;Mabuchi, K;Preston, D;Hannaford, P;Kay, C;Rosero-Bixby, L;Gao, YT;Jin, F;Yuan, JM;Wei, HY;Yun, T;Zhiheng, C;Berry, G;Cooper Booth, J;Jelihovsky, T;MacLennan, R;Shearman, R;Wang, QS;Baines, CJ;Miller, AB;Wall, C;Lund, E;Stalsberg, H;Shu, XO;Zheng, W;Katsouyanni, K;Trichopoulou, A;Trichopoulos, D;Dabancens, A;Martinez, L;Molina, R;Salas, O;Alexander, XE;Anderson, K;Folsom, AR;Hulka, BS;Bernstein, L;Enger, S;Haile, RW;Paganini-Hill, A;Pike, MC;Ross, RK;Ursin, G;Yu, MC;Longnecker, MP;Newcomb, P;Bergkvist, L;Kalache, A;Farley, TMM;Holck, S;Meirik, O
通讯作者：
Meirik, O
东亚人的全基因组关联研究确定了乳腺癌的新易感位点
影响因子：
4.5
作者：
Long J;Cai Q;Sung H;Shi J;Zhang B;Choi JY;Wen W;Delahanty RJ;Lu W;Gao YT;Shen H;Park SK;Chen K;Shen CY;Ren Z;Haiman CA;Matsuo K;Kim MK;Khoo US;Iwasaki M;Zheng Y;Xiang YB;Gu K;Rothman N;Wang W;Hu Z;Liu Y;Yoo KY;Noh DY;Han BG;Lee MH;Zheng H;Zhang L;Wu PE;Shieh YL;Chan SY;Wang S;Xie X;Kim SW;Henderson BE;Le Marchand L;Ito H;Kasuga Y;Ahn SH;Kang HS;Chan KY;Iwata H;Tsugane S;Li C;Shu XO;Kang DH;Zheng W
通讯作者：
Zheng W
影响因子：
2.2
作者：
Hofstatter, Erin W.;Domchek, Susan M.;Tung, Nadine
通讯作者：
Tung, Nadine
影响因子：
11.4
作者：
Berx, G;CletonJansen, AM;vanRoy, F
通讯作者：
vanRoy, F
影响因子：
30.8
作者：
Ghoussaini, Maya;Fletcher, Olivia;Michailidou, Kyriaki;Turnbull, Clare;Schmidt, Marjanka K.;Dicks, Ed;Dennis, Joe;Wang, Qin;Humphreys, Manjeet K.;Luccarini, Craig;Baynes, Caroline;Conroy, Don;Maranian, Melanie;Ahmed, Shahana;Driver, Kristy;Johnson, Nichola;Orr, Nicholas;Silva, Isabel dos Santos;Waisfisz, Quinten;Meijers-Heijboer, Hanne;Uitterlinden, Andre G.;Rivadeneira, Fernando;Hall, Per;Czene, Kamila;Irwanto, Astrid;Liu, Jianjun;Nevanlinna, Heli;Aittomaki, Kristiina;Blomqvist, Carl;Meindl, Alfons;Schmutzler, Rita K.;Mueller-Myhsok, Bertram;Lichtner, Peter;Chang-Claude, Jenny;Hein, Rebecca;Nickels, Stefan;Flesch-Janys, Dieter;Tsimiklis, Helen;Makalic, Enes;Schmidt, Daniel;Bui, Minh;Hopper, John L.;Apicella, Carmel;Park, Daniel J.;Southey, Melissa;Hunter, David J.;Chanock, Stephen J.;Broeks, Annegien;Verhoef, Senno;Hogervorst, Frans B. L.;Fasching, Peter A.;Lux, Michael P.;Beckmann, Matthias W.;Ekici, Arif B.;Sawyer, Elinor;Tomlinson, Ian;Kerin, Michael;Marme, Frederik;Schneeweiss, Andreas;Sohn, Christof;Burwinkel, Barbara;Guenel, Pascal;Truong, Therese;Cordina-Duverger, Emilie;Menegaux, Florence;Bojesen, Stig E.;Nordestgaard, Borge G.;Nielsen, Sune F.;Flyger, Henrik;Milne, Roger L.;Rosario Alonso, M.;Gonzalez-Neira, Anna;Benitez, Javier;Anton-Culver, Hoda;Ziogas, Argyrios;Bernstein, Leslie;Dur, Christina Clarke;Brenner, Hermann;Mueller, Heiko;Arndt, Volker;Stegmaier, Christa;Justenhoven, Christina;Brauch, Hiltrud;Bruening, Thomas;Wang-Gohrke, Shan;Eilber, Ursula;Doerk, Thilo;Schuermann, Peter;Bremer, Michael;Hillemanns, Peter;Bogdanova, Natalia V.;Antonenkova, Natalia N.;Rogov, Yuri I.;Karstens, Johann H.;Bermisheva, Marina;Prokofieva, Darya;Khusnutdinova, Elza;Lindblom, Annika;Margolin, Sara;Mannermaa, Arto;Kataja, Vesa;Kosma, Veli-Matti;Hartikainen, Jaana M.;Lambrechts, Diether;Yesilyurt, Betul T.;Floris, Giuseppe;Leunen, Karin;Manoukian, Siranoush;Bonanni, Bernardo;Fortuzzi, Stefano;Peterlongo, Paolo;Couch, Fergus J.;Wang, Xianshu;Stevens, Kristen;Lee, Adam;Giles, Graham G.;Baglietto, Laura;Severi, Gianluca;McLean, Catriona;Alnaes, Grethe Grenaker;Kristensen, Vessela;Borrensen-Dale, Anne-Lise;John, Esther M.;Miron, Alexander;Winqvist, Robert;Pylkas, Katri;Jukkola-Vuorinen, Arja;Kauppila, Saila;Andrulis, Irene L.;Glendon, Gord;Mulligan, Anna Marie;Devilee, Peter;van Asperen, Christie J.;Tollenaar, Rob A. E. M.;Seynaeve, Caroline;Figueroa, Jonine D.;Garcia-Closas, Montserrat;Brinton, Louise;Lissowska, Jolanta;Hooning, Maartje J.;Hollestelle, Antoinette;Oldenburg, Rogier A.;van den Ouweland, Ans M. W.;Cox, Angela;Reed, Malcolm W. R.;Shah, Mitul;Jakubowska, Ania;Lubinski, Jan;Jaworska, Katarzyna;Durda, Katarzyna;Jones, Michael;Schoemaker, Minouk;Ashworth, Alan;Swerdlow, Anthony;Beesley, Jonathan;Chen, Xiaoqing;Muir, Kenneth R.;Lophatananon, Artitaya;Rattanamongkongul, Suthee;Chaiwerawattana, Arkom;Kang, Daehee;Yoo, Keun-Young;Noh, Dong-Young;Shen, Chen-Yang;Yu, Jyh-Cherng;Wu, Pei-Ei;Hsiung, Chia-Ni;Perkins, Annie;Swann, Ruth;Velentzis, Louiza;Eccles, Diana M.;Tapper, Will J.;Gerty, Susan M.;Graham, Nikki J.;Ponder, Bruce A. J.;Chenevix-Trench, Georgia;Pharoah, Paul D. P.;Lathrop, Mark;Dunning, Alison M.;Rahman, Nazneen;Peto, Julian;Easton, Douglas F.
通讯作者：
Easton, Douglas F.