Genome-wide association analysis identifies three new breast cancer susceptibility loci.
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
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DOI：
10.1038/ng.1049
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发表时间：
2012-01-22
期刊：
影响因子：
30.8
通讯作者：
Easton, Douglas F.
中科院分区：
文献类型：
--
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.
乳腺癌是女性中最常见的癌症。迄今为止，已鉴定出 22 个常见乳腺癌易感位点，约占该疾病遗传力的 8%。我们对两项独立的全基因组关联研究 (GWAS) 中的 72 个有希望的关联进行了跟踪，其中涉及 41 项病例对照研究和 9 项乳腺癌 GWAS 中的约 70,000 例病例和约 68,000 例对照。我们在 12p11 (rs10771399; P=2.7 × 10−35)、12q24 (rs1292011; P=4.3×10−19) 和 21q21 (rs2823093; P=1.1×10−12) 上发现了三个新的乳腺癌风险位点。 SNP rs10771399 与雌激素受体 (ER) 阴性和 ER 阳性乳腺癌的相似相对风险相关，而其他两个基因座仅与 ER 阳性疾病相关。其中两个基因座位于包含强可信候选基因的区域：PTHLH (12p11) 在乳腺发育和乳腺癌骨转移的建立中发挥着至关重要的作用，而 NRIP1 (21q21) 编码 ER 辅因子并在调节乳腺癌细胞生长中发挥作用。
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~ 8% of the heritability of the disease. We followed up 72 promising associations from two independent Genome Wide Association Studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and nine breast cancer GWAS. We identified three new breast cancer risk loci on 12p11 (rs10771399; P=2.7 × 10−35), 12q24 (rs1292011; P=4.3×10−19) and 21q21 (rs2823093; P=1.1×10−12). SNP rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) plays a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, while NRIP1 (21q21) encodes an ER co-factor and has a role in the regulation of breast cancer cell growth.
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影响因子：
29.4
作者：
Cui, Ri;Kamatani, Yoichiro;Matsuda, Koichi
通讯作者：
Matsuda, Koichi
影响因子：
5.8
作者：
Johnson, Andrew D.;Handsaker, Robert E.;de Bakker, Paul I. W.
通讯作者：
de Bakker, Paul I. W.
影响因子：
30.8
作者：
Bluteau, O;Jeannot, E;Zucman-Rossi, J
通讯作者：
Zucman-Rossi, J
影响因子：
30.8
作者：
Gudbjartsson, Daniel F.;Bjornsdottir, Unnur S.;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
11.2
作者：
Fan, WW;Huang, X;Huang, TS
通讯作者：
Huang, TS