MTHFR C677T polymorphism contributes to unexplained recurrent spontaneous abortion

Abstract

Objective To explore the relationship between methylenetetrahydrofolate reductase (MTHFR) 677C>T and unexplained recurrent pregnancy loss (URPL). Methods All patients were recruited from the outpatient department of Obstetrics/Gynaecology & Genetics of Hangzhou First People's Hospital from January 2013 to May 2014.A case-control study was performed.According to the stochastic indicator method, there were 125 subjects with a history of ≥2 times URPL as the case group, and 905 healthy parous women with no history of URPL as the control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the distributions of the polymorphisms of MTHFR 677C>T, and the results were validated using oligo-chip and direct sequencing. Results The allele and genotype frequencies of MTHFR were 60.0% for C, 40.0% for T, 32.0% for CC, 56.0% for CT, and 12.0% for TT in the case group and 67.4% for C, 32.6% for T, 41.4% for CC, 52.0% for CT, and 6.6% for TT in the control group, respectively.The prevalence of allele T was significantly higher in the case group than in the control group (OR=1.379, 95%CI =1.051-1.808, P=0.020), the frequency of genotype TT was also significantly higher in the case group than in the control group (OR=2.344, 95%CI=1.220-4.503, P=0.009). Conclusion The fertile women with MTHFR 677T allele and 677TT genotype may be susceptibility to URPL in a Chinese Han population from the Hangzhou area.(Chin J Lab Med, 2015, 38: 243-246) Key words: Abortion, habitual; 5, 10-Methylenetetrahydrofolate reductase; Genotype; Polymorphism, restriction fragment length; Polymerase chain reaction