The Association Between The ANXA5 Gene Single Nucleotide Polymorphisms And Unexplained Recurrent Spontaneous Abortion In The Han Chinese Population

Background and Objective: Recurrent spontaneous abortion(RSA) is generally defined as two or more pregnancy losses occurred among a couple. It is a complicated disease that affects many fertile women. Accumulating data have demonstrated that many factors could lead to RSA, such as chromosomal abnormalities, anatomical abnormalities of the reproductive system, coagulation dysfunction, endocrine disorders and abnormal immune factors. However, half of RSA cases remain unexplained, which are called unexplained recurrent spontaneous abortion(URSA). Annexin A5(AXNA5) is an anticoagulant protein that belongs to the annexin family. It is demonstrated that AXNA5 is correlated with cell apoptosis, coagulation process, skeletal growth and development, and could also lead to cervical cancer and endometrial cancer. Many studies have indicated that single nucleotide polymorphism(SNP) of ANXA5 gene is associated with RSA. In this study, we investigated the association between 6 single nucleotide polymorphisms(SNP1 rs112782763, SNP2 rs28717001, SNP3 rs28651243, SNP4 rs113588187, SNP5 rs1050606,SNP6 rs11538099) in the ANXA5 gene promoter region and URSA in the Han Chinese population.Methods: A total of 214 Han Chinese women with RSA and 165 fertile healthy controls were recruited in this case-control study. All the participants in this study had signed the informed consent form. Allele frequency and genotype distribution of RSA patients and controls were determined. The Pearson chi-square test was used for analysis. Linkage disequilibrium and haplotype analysis were also performed.Results:(1) SNP1–4 and SNP6 showed no significant association with RSA(p >0.05).(2) SNP5(rs1050606) showed a significant association with RSA cases compared with normal controls(p =0.016).(3) Genotype distribution of SNP5(rs1050606) in the case group and the control group was statistically significant(p =0.041) by dominant model.(4) The M2 haplotype A-C-C-A showed no significant difference between RSA cases and controls(p =0.48).Conclusions:(1) These results suggest that the ANXA5 rs1050606 polymorphism may be a risk factor for URSA in the Han Chinese population.(2) The M2 genotype has no significant association with URSA in the Han Chinese population...