46 MTHFR gene polymorphism A1298C and development of pre-eclampsia

Abstract

Introduction Pre-eclampsia (PE) is a pregnancy-specific disease diagnosed by hypertension and proteinuria after 20th week of pregnancy. The methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme for folate and homocysteine metabolism. The A1298C (rs1801131) is a common polymorphism of MTHFR gene and has also been suspected as a contributor of altered serum homocysteine levels. Hyperhomocysteinemia has been associated with pregnancy complications such as pre-eclampsia. Objective Determine wheter MTHFR A1298C polymorphism is associated with PE susceptibility. Methods In this case-control study, a total of 53 preeclamptic pregnant women were recruited from Departament of Obstetrics and Gynecology of Clinical Hospital, of Triangulo Mineiro Federal University, Uberaba, Brazil. PE was defined according clinical findings, including increased blood pressure ( ⩾ 140 mmHg systolic or ⩾ 90 mmHg diastolic on 2 or more measurements at least 6 h apart) and proteinuria ⩾ 0.3 g/24 h or ⩾ +1 on a urine dipstick after 20 weeks of gestation. The control group included 179 normal pregnant women. None of PE patients and healthy controls had hypertension history. Genomic DNA was extracted from EDTA-treated whole blood by standard procedure of phenol–chloroform. Polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) was performed for MTHFR A1298C (rs1801131) genotyping and subsequent digestion of PCR products with MboII restriction enzyme. Differences in the distribution of genotypes and alleles between groups and deviations from the Hardy-Weinberg equilibrium were tested using the chi-square test. Results No deviation from the Hardy–Weinberg equilibrium was observed for MTHFR A1298C polymorphism either in PE patients or in healthy controls (p = 0.81 and p = 0.21 respectively). The frequency of 1298C allele in PE patients and controls was 28% and 20% and was not statistically different. The frequency of AA genotype was 54.2% and 62.3%, AC genotype was 36.3 and 33.9% and CC genotype was 9.5 and 3.8% in PE patients and controls, respectively, which was not significantly different (p = 0.337). Conclusion The MTHFR A1298C (rs1801131) polymorphism is not associated with risk of developing pre-eclampsia. Conflict of interest The authors declare that they have no conflicts of interest.