Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.
作者： Mi-Ryung Han , Jirong Long , Ji-Yeob Choi , Siew-Kee Low , Sun-Seog Kweon
DOI: 10.1093/HMG/DDW164
关键词:
摘要: Breast cancer is one of the most common malignancies among women worldwide. Genetic factors have been shown to play an important role in breast aetiology. We conducted a two-stage genome-wide association study (GWAS) including 14 224 cases and 829 controls East Asian search for novel genetic susceptibility loci cancer. Single nucleotide polymorphisms (SNPs) two were found be associated with risk at significance level. The first locus, represented by rs12118297 1p22.3 (near LMO4 gene), was odds ratio (OR) (95% confidence interval (CI)) 0.91 (0.88-0.94) P-value 4.48 × 10- 8 This replicated another study, DRIVE GAME-ON Consortium, 16 003 41 335 European ancestry (OR = 0.95, 95% CI = 0.91-0.99, P-value = 0.019). second rs16992204 21q22.12 LINC00160 OR CI) 1.13 (1.07-1.18) 4.63 × 10 - allele frequency this SNP zero European-ancestry populations 1000 Genomes Project thus its cannot assessed Consortium. Functional annotation using ENCODE data indicates that might located repressed element locus may affect through regulating expressions interaction oestrogen receptor signalling. Our findings provide additional insights into genetics
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