乳腺癌BRCA1相互作用蛋白1基因功能区单核苷酸多态性与习惯性流产的相关性

Objective: To investigate the association between the polymorphism of BRIP1 gene functional single nucleotide polymorphisms (SNPs) and risk of recurrent miscarriages (RM). Methods: Totally 291 RM patients and 281 healthy adults were recruited in this study. Genome DNA was extracted. The genotype of four polymorphic loci of BRIP1 was performed using matrix assisted laser desorption ionization-time of flight MassARRAY system. Genotype, allele and haplotype frequency were analyzed using SPSS 20.0 and Haploview 4.2 software. Results: Compared with those of healthy adults, the frequency of BRIP1 rs4986764 CC genotype in RM patients was higher (χ²=6.469, P=0.039) and the frequency of C allele in patients with RM was higher (χ²=4.893, P=0.027, OR=1.330, 95% CI=1.033-1.714). Strong linkage disequilibrium was observed in one block (D'>0.9,r²>0.8) (rs11079454-rs4986763-rs494986764). Significantly more T-T-T haplotypes (χ²=8.043, P=0.005, OR=0.565, 95% CI=0.381-0.840) were found in controls and significantly higher T-C-C haplotypes (χ²=4.392, P=0.036, OR=1.540, 95% CI=1.027-2.310) were found in RM subjects. Conclusion: BRIP1 gene rs494986764 polymorphism in exon 18 may play a role in RM. The subjects with C allele have a higher risk for RM.