ArticleBreast cancer research : BCR2025
Genome-wide association study of Asian women identifies putative mammographic density-associated loci.
Article in Breast cancer research : BCR, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMammographic density (MD) is a strong, heritable risk factor for breast cancer. To date, 55 independent MD-associated genetic loci have been identified through genome-wide association studies (GWASs) in women of European ancestry; however, no studies have been reported in Asian women.
methodsTo identify novel loci, we conducted genome-wide association studies (GWASs) of absolute dense, absolute nondense, and percentage area and volumetric densities, adjusting for age, body mass index (BMI), and ancestry-informative principal components, in a multi-ethnic cohort of 2,951 Asian women attending opportunistic mammography screening. We selected 175 novel loci that were associated with at least one MD phenotype at P < 5 × 10
resultsFour of the 175 loci were replicated in women of Asian ancestry at P < 0.05, with directions of association that were consistent with those observed in the GWAS. The rs7018644 SNP at the 9p13.1 locus was the only loci replicated in both Asian and European cohorts. In addition, eight SNPs were also associated with breast cancer risk (P < 0.05) in a GWAS meta-analysis of Asian women.
conclusionThis study identifies potential novel MD-associated loci in Asian women. Replication in a larger Asian study is needed to confirm these findings.
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