Genetic variants in 3′‐UTRs of MTHFR in the pregnancies complicated with preeclampsia and bioinformatics analysis

摘要

Abstract Preeclampsia (PE) as a pregnancy‐specific disorder is the major cause of mortality and morbidity of mothers and fetuses. This study attempts to investigate the possible association between the 2572CA (rs4846049) and 4869CG (rs1537514) polymorphisms in the 3′‐ untranslated region of MTHFR gene and the risk of PE. A total of 198 patients diagnosed with PE and 171 unrelated, age matched healthy pregnant women, were recruited for this case‐control study. The MTHFR 2572CA and 4869CG genotyping was performed by the polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) method. The CG genotype of MTHFR 4869CG was associated with decreased risk of PE, and this genotype was found to be a protective factor for PE susceptibility. There was no significant difference in the genotypes of MTHFR 2572CA polymorphism between PE patients and control group. The frequency of combined AC/CG genotypes of MTHFR 2572CA and 4869CG polymorphisms were less frequent in PE patients and were associated with a lower risk of PE. The C‐G and A‐G haplotypes of MTHFR 2572CA and 4869CG polymorphisms were significantly lower in PE patients. In conclusion, the CG genotype of MTHFR 4869CG polymorphism was associated with a lower risk of PE. No association was found between MTHFR 2572CA polymorphism and PE.