A genome-wide association study of breast cancer in women of African ancestry

被引：62

作者：

Chen, Fang ^{[2
]}

Chen, Gary K. ^{[2
]}

Stram, Daniel O. ^{[2
]}

Millikan, Robert C. ^{[3
]}

Ambrosone, Christine B. ^{[4
]}

John, Esther M. ^{[5
,6
]}

Bernstein, Leslie ^{[7
]}

Zheng, Wei ^{[8
]}

Palmer, Julie R. ^{[9
]}

Hu, Jennifer J. ^{[10
]}

Rebbeck, Tim R. ^{[11
]}

Ziegler, Regina G. ^{[12
]}

Nyante, Sarah ^{[3
]}

Bandera, Elisa V. ^{[13
]}

Ingles, Sue A. ^{[2
]}

Press, Michael F. ^{[14
]}

Ruiz-Narvaez, Edward A. ^{[9
]}

Deming, Sandra L. ^{[8
]}

Rodriguez-Gil, Jorge L. ^{[10
]}

DeMichele, Angela ^{[11
]}

Chanock, Stephen J. ^{[12
]}

Blot, William ^{[8
]}

Signorello, Lisa ^{[8
]}

Cai, Qiuyin ^{[8
]}

Li, Guoliang ^{[8
]}

Long, Jirong ^{[8
]}

Huo, Dezheng ^{[15
]}

Zheng, Yonglan ^{[16
]}

Cox, Nancy J. ^{[16
]}

Olopade, Olufunmilayo I. ^{[16
]}

Ogundiran, Temidayo O. ^{[17
]}

Adebamowo, Clement ^{[18
]}

Nathanson, Katherine L. ^{[11
]}

Domchek, Susan M. ^{[11
]}

Simon, Michael S. ^{[19
]}

Hennis, Anselm ^{[20
,21
]}

Nemesure, Barbara ^{[21
]}

Wu, Suh-Yuh ^{[21
]}

Leske, M. Cristina ^{[21
]}

Ambs, Stefan ^{[22
]}

Hutter, Carolyn M. ^{[23
]}

Young, Alicia ^{[23
]}

Kooperberg, Charles ^{[23
]}

Peters, Ulrike ^{[23
]}

Rhie, Suhn K. ^{[2
]}

Wan, Peggy ^{[2
]}

Sheng, Xin ^{[2
]}

Pooler, Loreall C. ^{[2
]}

Van Den Berg, David J. ^{[2
,24
]}

Le Marchand, Loic ^{[25
]}

机构：

[1] USC Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA

[2] Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[3] Univ N Carolina, Lineberger Comprehens Canc Ctr, Gillings Sch Global Publ Hlth, Dept Epidemiol, Chapel Hill, NC 27599 USA

[4] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

[5] Canc Prevent Inst Calif, Fremont, CA USA

[6] Stanford Univ, Sch Med, Stanford Canc Inst, Stanford, CA 94305 USA

[7] City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Div Canc Etiol, Duarte, CA USA

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

[9] Boston Univ, Slone Epidemiol Ctr, Boston, MA 02215 USA

[10] Univ Miami, Miller Sch Med, Sylvester Comprehens Canc Ctr, Dept Epidemiol & Publ Hlth, Miami, FL 33136 USA

[11] Univ Penn, Sch Med, Philadelphia, PA 19104 USA

[12] NCI, Epidemiol & Biostat Program, Div Canc Epidemiol & Genet, Bethesda, DC USA

[13] Canc Inst New Jersey, New Brunswick, NJ USA

[14] Univ So Calif, Keck Sch Med, Dept Pathol, Los Angeles, CA 90033 USA

[15] Univ Chicago, Dept Hlth Studies, Chicago, IL 60637 USA

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

[17] Univ Ibadan, Coll Med, Dept Surg, Ibadan, Nigeria

[18] Univ Maryland, Dept Epidemiol & Prevent Med, Baltimore, MD 21201 USA

[19] Wayne State Univ, Karmanos Canc Inst, Dept Oncol, Detroit, MI USA

[20] Univ W Indies, Res Inst Trop Med, Chron Dis Res Ctr, Bridgetown, Barbados

[21] SUNY Stony Brook, Dept Prevent Med, Stony Brook, NY 11794 USA

[22] NCI, Human Carcinogenesis Lab, Bethesda, MD 20892 USA

[23] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA

[24] Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Epigenome Ctr, Los Angeles, CA 90033 USA

[25] Univ Hawaii, Canc Res Ctr, Program Epidemiol, Honolulu, HI 96813 USA

来源：

HUMAN GENETICS | 2013年 / 132卷 / 01期

基金：

美国国家卫生研究院;

关键词：

SUSCEPTIBILITY LOCI; CONFER SUSCEPTIBILITY; COMMON VARIANTS; RISK; AMERICAN; DIVERSITY; ALLELES; ORIGINS;

D O I：

10.1007/s00439-012-1214-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide association studies (GWAS) in diverse populations are needed to reveal variants that are more common and/or limited to defined populations. We conducted a GWAS of breast cancer in women of African ancestry, with genotyping of > 1,000,000 SNPs in 3,153 African American cases and 2,831 controls, and replication testing of the top 66 associations in an additional 3,607 breast cancer cases and 11,330 controls of African ancestry. Two of the 66 SNPs replicated (p < 0.05) in stage 2, which reached statistical significance levels of 10(-6) and 10(-5) in the stage 1 and 2 combined analysis (rs4322600 at chromosome 14q31: OR = 1.18, p = 4.3 x 10(-6); rs10510333 at chromosome 3p26: OR = 1.15, p = 1.5 x 10(-5)). These suggestive risk loci have not been identified in previous GWAS in other populations and will need to be examined in additional samples. Identification of novel risk variants for breast cancer in women of African ancestry will demand testing of a substantially larger set of markers from stage 1 in a larger replication sample.

引用

页码：39 / 48

页数：10

共 34 条

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Heath, Simon ;

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← 1 2 3 4 →

共 34 条

[1] Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 [J].

Ahmed, Shahana ;

Thomas, Gilles ;

Ghoussaini, Maya ;

Healey, Catherine S. ;

Humphreys, Manjeet K. ;

Platte, Radka ;

Morrison, Jonathan ;

Maranian, Melanie ;

Pooley, Karen A. ;

Luben, Robert ;

Eccles, Diana ;

Evans, D. Gareth ;

Fletcher, Olivia ;

Johnson, Nichola ;

Silva, Isabel dos Santos ;

Peto, Julian ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Jacobs, Kevin ;

Prentice, Ross ;

Anderson, Garnet L. ;

Rajkovic, Aleksandar ;

Curb, J. David ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Diver, W. Ryan ;

Bojesen, Stig ;

Nordestgaard, Borge G. ;

Flyger, Henrik ;

Doerk, Thilo ;

Schuermann, Peter ;

Hillemanns, Peter ;

Karstens, Johann H. ;

Bogdanova, Natalia V. ;

Antonenkova, Natalia N. ;

Zalutsky, Iosif V. ;

Bermisheva, Marina ;

Fedorova, Sardana ;

Khusnutdinova, Elza ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong Young ;

Ahn, Sei-Hyun ;

Devilee, Peter ;

van Asperen, Christi J. .

NATURE GENETICS, 2009, 41 (05) :585-590

[2] A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population [J].

Antoniou, Antonis C. ;

Wang, Xianshu ;

Fredericksen, Zachary S. ;

McGuffog, Lesley ;

Tarrell, Robert ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Morrison, Jonathan ;

Kartsonaki, Christiana ;

Lesnick, Timothy ;

Ghoussaini, Maya ;

Barrowdale, Daniel ;

Peock, Susan ;

Cook, Margaret ;

Oliver, Clare ;

Frost, Debra ;

Eccles, Diana ;

Evans, D. Gareth ;

Eeles, Ros ;

Izatt, Louise ;

Chu, Carol ;

Douglas, Fiona ;

Paterson, Joan ;

Stoppa-Lyonnet, Dominique ;

Houdayer, Claude ;

Mazoyer, Sylvie ;

Giraud, Sophie ;

Lasset, Christine ;

Remenieras, Audrey ;

Caron, Olivier ;

Hardouin, Agnes ;

Berthet, Pascaline ;

Hogervorst, Frans B. L. ;

Rookus, Matti A. ;

Jager, Agnes ;

van den Ouweland, Ans ;

Hoogerbrugge, Nicoline ;

van der Luijt, Rob B. ;

Meijers-Heijboer, Hanne ;

Garcia, Encarna B. Gomez ;

Devilee, Peter ;

Vreeswijk, Maaike P. G. ;

Lubinski, Jan ;

Jakubowska, Anna ;

Gronwald, Jacek ;

Huzarski, Tomasz ;

Byrski, Tomasz ;

Gorski, Bohdan ;

Cybulski, Cezary ;

Spurdle, Amanda B. .

NATURE GENETICS, 2010, 42 (10) :885-+

[3] African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping [J].

Campbell, Michael C. ;

Tishkoff, Sarah A. .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2008, 9 :403-433

[4] Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans [J].

Chen, Fang ;

Chen, Gary K. ;

Millikan, Robert C. ;

John, Esther M. ;

Ambrosone, Christine B. ;

Bernstein, Leslie ;

Zheng, Wei ;

Hu, Jennifer J. ;

Ziegler, Regina G. ;

Deming, Sandra L. ;

Bandera, Elisa V. ;

Nyante, Sarah ;

Palmer, Julie R. ;

Rebbeck, Timothy R. ;

Ingles, Sue A. ;

Press, Michael F. ;

Rodriguez-Gil, Jorge L. ;

Chanock, Stephen J. ;

Le Marchand, Loic ;

Kolonel, Laurence N. ;

Henderson, Brian E. ;

Stram, Daniel O. ;

Haiman, Christopher A. .

HUMAN MOLECULAR GENETICS, 2011, 20 (22) :4491-4503

[5] Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations [J].

Chen, Fang ;

Stram, Daniel O. ;

Le Marchand, Loic ;

Monroe, Kristine R. ;

Kolonel, Laurence N. ;

Henderson, Brian E. ;

Haiman, Christopher A. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (02) :243-245

[6] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

[7] Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study [J].

Fletcher, Olivia ;

Johnson, Nichola ;

Orr, Nick ;

Hosking, Fay J. ;

Gibson, Lorna J. ;

Walker, Kate ;

Zelenika, Diana ;

Gut, Ivo ;

Heath, Simon ;

Palles, Claire ;

Coupland, Ben ;

Broderick, Peter ;

Schoemaker, Minouk ;

Jones, Michael ;

Williamson, Jill ;

Chilcott-Burns, Sarah ;

Tomczyk, Katarzyna ;

Simpson, Gemma ;

Jacobs, Kevin B. ;

Chanock, Stephen J. ;

Hunter, David J. ;

Tomlinson, Ian P. ;

Swerdlow, Anthony ;

Ashworth, Alan ;

Ross, Gillian ;

Silva, Isabel dos Santos ;

Lathrop, Mark ;

Houlston, Richard S. ;

Peto, Julian .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (05) :425-435

[8] Genome-wide association analysis identifies three new breast cancer susceptibility loci [J].

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 ;

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