Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

Zheng W, Long J, Gao YT, Li C, Zheng Y, Xiang YB, Wen W, Levy S, Deming SL, Haines JL, Gu K, Fair AM, Cai Q, Lu W, Shu XO
Nat Genet. 2009 41 (3): 324-8

PMID: 19219042 · PMCID: PMC2754845 · DOI:10.1038/ng.318

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 alpha (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 x 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 (P(trend) = 0.01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer.

MeSH Terms (15)

Adult Breast Neoplasms Case-Control Studies Chromosomes, Human, Pair 6 Estrogen Receptor alpha Female Gene Frequency Genetic Predisposition to Disease Genome-Wide Association Study Humans Linkage Disequilibrium Middle Aged Polymorphism, Single Nucleotide Quantitative Trait Loci Risk Factors

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