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


ABSTRACT: 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 × 10(-6); rs10510333 at chromosome 3p26: OR = 1.15, p = 1.5 × 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.

SUBMITTER: Chen F 

PROVIDER: S-EPMC3749077 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature

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

Chen Fang F   Chen Gary K GK   Stram Daniel O DO   Millikan Robert C RC   Ambrosone Christine B CB   John Esther M EM   Bernstein Leslie L   Zheng Wei W   Palmer Julie R JR   Hu Jennifer J JJ   Rebbeck Tim R TR   Ziegler Regina G RG   Nyante Sarah S   Bandera Elisa V EV   Ingles Sue A SA   Press Michael F MF   Ruiz-Narvaez Edward A EA   Deming Sandra L SL   Rodriguez-Gil Jorge L JL   Demichele Angela A   Chanock Stephen J SJ   Blot William W   Signorello Lisa L   Cai Qiuyin Q   Li Guoliang G   Long Jirong J   Huo Dezheng D   Zheng Yonglan Y   Cox Nancy J NJ   Olopade Olufunmilayo I OI   Ogundiran Temidayo O TO   Adebamowo Clement C   Nathanson Katherine L KL   Domchek Susan M SM   Simon Michael S MS   Hennis Anselm A   Nemesure Barbara B   Wu Suh-Yuh SY   Leske M Cristina MC   Ambs Stefan S   Hutter Carolyn M CM   Young Alicia A   Kooperberg Charles C   Peters Ulrike U   Rhie Suhn K SK   Wan Peggy P   Sheng Xin X   Pooler Loreall C LC   Van Den Berg David J DJ   Le Marchand Loic L   Kolonel Laurence N LN   Henderson Brian E BE   Haiman Christopher A CA  

Human genetics 20120825 1


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  ...[more]

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