Association between genetic variants of EGF-containing fibulin-like extracellular matrix protein1 gene and sporadic breast cancer in a Chinese Han population

作者：Li, X.^*; Quan, Y.; Tang, C.; Chen, Y.

来源：European Journal of Gynaecological Oncology, 2016, 37(1): 80-85.

• EFEMP1 gene
• Single nucleotide polymorphism
• Genetic susceptibility
• Molecular biology
• Breast cancer

Purpose of investigation: Genetic susceptibility of breast cancer has been shown to be modulated by inheritance of polymorphic genes. EGF-containing fibulin-like extracellular matrix protein1 (EFEMP1) gene played an important role in many tumors, including lung cancer, hepatic carcinoma, and prostate cancer. In addition, it was importantly downexpressed in breast cancer. The present research aimed to assess the association between genetic variations of EFEMP1 and breast cancer risk. Materials and Methods: The authors genotyped 11 common tagging SNPs with an array platform including 960 cases and 972 cancer-free controls of Chinese women, according to the HapMap database based on the pairwise linkage disequilibrium (LD) r(2) threshold of 0.8, minor allele frequency of 0.05. Results: Three SNPs were significant associated with breast cancer (rs3791679, p=0.016, OR=1.21, 95%CI=1.04-1.41; rs1346786, p=0.005, OR=1.31, 95%CI=1.08-1.59; rs727878,p=0.002, OR=1.29, 95%CI = 1.10-1.51). Multivariate logistic regression analysis revealed that, compared with wild-type carriers in a dominant model, a significantly increased breast cancer risk was associated with the three identified risk SNPs. Among the selected tagging SNPs, three haplotype blocks were identified, and the results of haplotype analysis were consistent with the single-locus analysis. The haplotype 'GG' in block 1 and haplotype 'AG' in block 2 were significantly associated with breast cancer, and had a 54% and 28% increased breast cancer risk respectively, compared with their corresponding noncarriers. Conclusions: The present results suggested that the polymorphisms of EFEMP1 gene were associated with breast cancer and might contribute to the susceptibility of the progression of breast cancer in Chinese Han women. Individuals with the risk alleles might increase the risk of breast cancer.

• 出版日期2016
• 单位复旦大学