Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1

被引：121

作者：

Cai, Qiuyin ^{[1
]}

Zhang, Ben ^{[1
]}

Sung, Hyuna ^{[2
,3
]}

Low, Siew-Kee ^{[4
]}

Kweon, Sun-Seog ^{[5
,6
]}

Lu, Wei ^{[7
]}

Shi, Jiajun ^{[1
]}

Long, Jirong ^{[1
]}

Wen, Wanqing ^{[1
]}

Choi, Ji-Yeob ^{[2
,8
]}

Noh, Dong-Young ^{[8
,9
]}

Shen, Chen-Yang ^{[10
,11
,12
]}

Matsuo, Keitaro ^{[13
]}

Teo, Soo-Hwang ^{[14
,15
]}

Kim, Mi Kyung ^{[16
]}

Khoo, Ui Soon ^{[17
]}

Iwasaki, Motoki ^{[18
]}

Hartman, Mikael ^{[19
,20
,21
,22
]}

Takahashi, Atsushi ^{[4
]}

Ashikawa, Kyota ^{[23
]}

Matsuda, Koichi ^{[24
]}

Shin, Min-Ho ^{[5
]}

Park, Min Ho ^{[25
]}

Zheng, Ying ^{[7
]}

Xiang, Yong-Bing ^{[26
]}

Ji, Bu-Tian ^{[27
]}

Park, Sue K. ^{[2
,8
,28
]}

Wu, Pei-Ei ^{[10
,11
]}

Hsiung, Chia-Ni ^{[10
,11
]}

Ito, Hidemi ^{[29
]}

Kasuga, Yoshio ^{[30
]}

Kang, Peter ^{[14
]}

Mariapun, Shivaani ^{[14
,15
]}

Ahn, Sei Hyun ^{[31
]}

Kang, Han Sung ^{[32
]}

Chan, Kelvin Y. K. ^{[17
,33
]}

Man, Ellen P. S. ^{[17
]}

Iwata, Hiroji ^{[34
]}

Tsugane, Shoichiro ^{[35
]}

Miao, Hui ^{[20
]}

Liao, Jiemin ^{[36
,37
,38
]}

Nakamura, Yusuke ^{[39
]}

Kubo, Michiaki

Delahanty, Ryan J. ^{[1
]}

Zhang, Yanfeng ^{[1
]}

Li, Bingshan ^{[40
]}

Li, Chun ^{[41
]}

Gao, Yu-Tang ^{[26
]}

Shu, Xiao-Ou ^{[1
]}

Kang, Daehee ^{[2
,8
,28
]}

机构：

[1] Vanderbilt Univ, Vanderbilt Ingram Canc Ctr, Vanderbilt Epidemiol Ctr, Sch Med,Dept Med,Div Epidemiol, Nashville, TN 37212 USA

[2] Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea

[3] NCI, Div Epidemiol & Genet, Genet Epidemiol Branch, Rockville, MD USA

[4] RIKEN, Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa, Japan

[5] Chonnam Natl Univ, Sch Med, Dept Prevent Med, Kwangju, South Korea

[6] Chonnam Natl Univ, Hwasun Hosp, Jeonnam Reg Canc Ctr, Hwasun, South Korea

[7] Shanghai Municipal Ctr Dis Control & Prevent, Shanghai, Peoples R China

[8] Seoul Natl Univ, Coll Med, Canc Res Inst, Seoul, South Korea

[9] Seoul Natl Univ, Coll Med, Dept Surg, Seoul, South Korea

[10] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan

[11] Acad Sinica, Taiwan Biobank, Taipei, Taiwan

[12] China Med Univ, Coll Publ Hlth, Dept Publ Hlth, Taichung, Taiwan

[13] Kyushu Univ, Fac Med Sci, Dept Prevent Med, Fukuoka, Japan

[14] Sime Darby Med Ctr, Cancer Res Initiat Fdn, Subang Jaya, Malaysia

[15] Univ Malaya, Fac Med, Univ Malaya Canc Res Inst, Kuala Lumpur, Malaysia

[16] Natl Canc Ctr, Div Canc Epidemiol & Management, Gyeonggi Do, South Korea

[17] Univ Hong Kong, Li Ka Shing Fac Med, Dept Pathol, Hong Kong, Peoples R China

[18] Natl Canc Ctr, Epidemiol Div,Res Ctr Canc Prevent & Screen, Tokyo, Japan

[19] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore

[20] Natl Univ Singapore, Dept Surg, Singapore, Singapore

[21] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[22] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[23] RIKEN, Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa, Japan

[24] Univ Tokyo, Ctr Human Genome, Inst Med Sci, Mol Med Lab, Tokyo, Japan

[25] Chonnam Natl Univ, Sch Med, Dept Surg, Kwangju, South Korea

[26] Shanghai Canc Inst, Dept Epidemiol, Shanghai, Peoples R China

[27] US Dept Hlth & Human Serv, US Natl Inst Hlth, Natl Canc Inst, Div Canc Epidemiol & Genet, Bethesda, MD USA

[28] Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea

[29] Aichi Canc Ctr Res Inst, Div Epidemiol & Prevent, Nagoya, Aichi, Japan

[30] Nagano Matsushiro Gen Hosp, Dept Surg, Nagano, Japan

[31] Univ Ulsan, Coll Med, Asan Med Ctr, Dept Surg, Seoul, South Korea

[32] Natl Canc Ctr, Ctr Breast Canc, Gyeonggi Do, South Korea

[33] Univ Hong Kong, Queen Mary Hosp, Li Ka Shing Fac Med, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China

[34] Aichi Canc Ctr Cent Hosp, Dept Breast Oncol, Nagoya, Aichi, Japan

[35] Natl Canc Ctr, Res Ctr Canc Prevent & Screening, Tokyo, Japan

[36] Singapore Eye Res Inst, Singapore, Singapore

[37] Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore

[38] Natl Univ Hlth Syst, Singapore, Singapore

[39] Univ Chicago, Dept Med, Chicago, IL 60637 USA

[40] Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37235 USA

[41] Vanderbilt Univ, Sch Med, Dept Biostat, Nashville, TN 37212 USA

来源：

NATURE GENETICS | 2014年 / 46卷 / 08期

基金：

美国国家卫生研究院; 新加坡国家研究基金会; 英国医学研究理事会;

关键词：

RISK VARIANT; METAANALYSIS; CYTOKINESIS; PRC1;

D O I：

10.1038/ng.3041

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H1 IA gene; P = 8.82 x 10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P = 1.67 x 10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P= 4.25 x 10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P = 0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.

引用

页码：886 / 890

页数：5

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← 1 2 3 →

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Godwin, Andrew K. ;

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Giles, Graham G. ;

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Hopper, John L. ;

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Wang, Qin ;

Dennis, Joe ;

Dicks, Ed ;

Howat, Will J. ;

Schoof, Nils ;

Bojesen, Stig E. ;

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Broeks, Annegien ;

Andrulis, Irene L. ;

Guenel, Pascal ;

Burwinkel, Barbara ;

Sawyer, Elinor J. ;

Hollestelle, Antoinette ;

Fletcher, Olivia ;

Winqvist, Robert ;

Brenner, Hermann ;

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Hamann, Ute ;

Meindl, Alfons ;

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Haiman, Christopher A. ;

Chen, Gary K. ;

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Dunning, Alison ;

Millikan, Robert C. ;

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Ademuyiwa, Foluso ;

Ahmed, Shahana ;

Ambrosone, Christine B. ;

Baglietto, Laura ;

Balleine, Rosemary ;

Bandera, Elisa V. ;

Beckmann, Matthias W. ;

Berg, Christine D. ;

Bernstein, Leslie ;

Blomqvist, Carl ;

Blot, William J. ;

Brauch, Hiltrud ;

Buring, Julie E. ;

Carey, Lisa A. ;

Carpenter, Jane E. ;

Chang-Claude, Jenny ;

Chanock, Stephen J. ;

Chasman, Daniel I. ;

Clarke, Christine L. ;

Cox, Angela ;

Cross, Simon S. ;

Deming, Sandra L. ;

Diasio, Robert B. ;

Dimopoulos, Athanasios M. ;

Driver, W. Ryan ;

Duennebier, Thomas ;

Durcan, Lorraine ;

Eccles, Diana ;

Edlund, Christopher K. ;

Ekici, Arif B. ;

Fasching, Peter A. ;

Feigelson, Heather S. ;

Flesch-Janys, Dieter ;

Fostira, Florentia ;

Foersti, Asta ;

Fountzilas, George ;

Gerty, Susan M. ;

Giles, Graham G. ;

Godwin, Andrew K. ;

Goodfellow, Paul ;

Graham, Nikki ;

Greco, Dario ;

Hamann, Ute .

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Kim, Hyung-cheol ;

Lee, Ji-Young ;

Sung, Hyuna ;

Choi, Ji-Yeob ;

Park, Sue K. ;

Lee, Kyoung-Mu ;

Kim, Young Jin ;

Go, Min Jin ;

Li, Lian ;

Cho, Yoon Shin ;

Park, Miey ;

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