一项针对非洲裔女性乳腺癌的全基因组关联研究。
A genome-wide association study of breast cancer in women of African ancestry.
机构信息
Department of Preventive Medicine, Keck School of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
出版信息
Hum Genet. 2013 Jan;132(1):39-48. doi: 10.1007/s00439-012-1214-y. Epub 2012 Aug 25.
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.
需要在不同人群中进行全基因组关联研究（GWAS），以揭示更常见和/或仅限于特定人群的变异。我们对非洲裔美国女性的乳腺癌进行了 GWAS，对 3153 例非裔美国乳腺癌病例和 2831 例对照进行了超过 100 万个 SNP 的基因分型，并在另外 3607 例非洲裔乳腺癌病例和 11330 例对照中对前 66 个关联进行了复制测试。在第 2 阶段，有 2 个 66 个 SNP 得到了复制（p < 0.05），在第 1 阶段和第 2 阶段的联合分析中达到了统计学意义水平的 10(-6)和 10(-5)（染色体 14q31 上的 rs4322600：OR = 1.18，p = 4.3 × 10(-6)；染色体 3p26 上的 rs10510333：OR = 1.15，p = 1.5 × 10(-5)）。这些提示风险位点在以前的其他人群的 GWAS 中尚未被发现，需要在其他样本中进行检查。在非洲裔美国女性中鉴定乳腺癌的新风险变异需要在更大的复制样本中对第 1 阶段的标记进行大量测试。
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