Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population
作者： Yanru Wang , Yisha He , Zhenzhen Qin , Yue Jiang , Guangfu Jin
DOI: 10.1186/S13058-014-0422-X
关键词:
摘要: Single-nucleotide polymorphisms (SNPs) at 6q25.1 that are associated with breast cancer susceptibility have been identified in several genome-wide association studies (GWASs). However, the exact causal variants this region not clarified. In present study, we genotyped six potentially functional single-nucleotide within CCDC170 and ESR1 gene regions accessed their associations risk of a study 1,064 cases 1,073 cancer-free controls Chinese women. The biological function variant was further evaluated by performing laboratory experiments. Breast significantly three SNPs located 6q25.1—rs9383935 rs2228480 rs3798758 ESR1—with allele attributed odds ratios (ORs) 1.38 (95% confidence interval (CI): 1.20 to 1.57, P = 2.21 × 10-6), 0.84 CI: 0.72 0.98, 0.025) 1.19 1.04 1.37, 0.013), respectively. rs9383935 is high linkage disequilibrium (LD) GWAS-reported top-hit SNP (rs2046210), but only showed strong independent effect conditional regression analysis. A decreased activity reporter both MCF-7 BT-474 cell lines, which might be due an altered binding capacity miR-27a 3' untranslated (3' UTR) sequence CCDC170. Real-time quantitative reverse transcription PCR confirmed correlation between genotypes expression levels. results suggest rs9383935, UTR CCDC170, may one candidate modulate cancer.
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