Abstract

Ring finger protein 146, an E3 ubiquitin ligase, regulates breast cancer development, metastasis and drug resistance. E3 ubiquitin ligase is an indispensable class of enzymes in the ubiquitin-proteasome system, which can be divided into HECT E3s, U-box E3s and ring E3s. Genome-wide association analyses have revealed the association between the ring finger protein 146 rs2180341 single nucleotide polymorphism and breast cancer risk in Ashkenazi Jewish people but not in Southern Chinese individuals. Herein, A retrospective case-control study of 828 breast cancer patients and 905 healthy controls was conducted to examine this association in Northern Chinese. Deoxyribonucleic acid from peripheral blood was sequenced to determine genotypes. We analyzed the association of the ring finger protein 146 rs2180341 single nucleotide polymorphism with breast cancer risk using odds ratios with binary logistic regression and between the single nucleotide polymorphism and clinic pathological breast cancer characteristics using Pearson’s chi-square or Fisher’s exact tests. Survival analyses were performed using the Kaplan-Meier method. In the codominant model, the ring finger protein 146 rs2180341 single nucleotide polymorphism and breast cancer risk were correlated. Our results showed that, compared with individuals with the ring finger protein 146 rs2180341 AA genotype, those with the GG genotype had an odds ratio of 1.932 (95 % confidence interval, 1.320-2.829, p=0.001) for developing breast cancer. No significant associations were found between the single nucleotide polymorphism and clinical characteristics or disease-free or overall survival. In conclusion, this single nucleotide polymorphism is related to breast cancer susceptibility but not with breast cancer clinic pathological characteristics or prognosis in Northern Chinese individuals.