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Zheng, Wei; Li, Chun; Fair, Alecia Malin; Lu, Wei; Levy, Shawn; Wen, Wanqing; Long, Jirong; Zheng, Ying; Deming, Sandra L; Cai, Qiuyin; Xiang, Yong-Bin; Shu, Xiao-Ou; Gao, Yu-Tang; Haines, Jonathan L; Gu, Kai
Nature genetics, 03/2009, Letnik: 41, Številka: 3Journal Article
We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing 607,728 SNPs in 1,505 cases and 1,522 controls, we selected 29 SNPs for a fast-track replication in an independent set of 1,554 cases and 1,576 controls. We further investigated four replicated loci in a third set of samples comprising 3,472 cases and 900 controls. SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor α (ESR1), showed strong and consistent association with breast cancer across all three stages. Adjusted odds ratio (95% CI) were 1.36 (1.24-1.49) and 1.59 (1.40-1.82), respectively, for genotypes A/G and A/A versus G/G (P for trend 2.0 × 10−15) in the pooled analysis of samples from all three stages. We also found a similar, albeit weaker, association in an independent study comprising 1,591 cases and 1,466 controls of European ancestry (Ptrend = 0.01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer.
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