The Study on Polymorphisms of Key Enzyme Genes of Folate Metabolism and Their Correlation with Homocysteine in 4 063 Cases
Objective To explore the polymorphism of folate metabolizing enzyme gene and its relationship with homocysteine(Hcy)in couples in Taoyuan County,Hunan Province,in order to provide theoretical basis for individualized folic acid supplementation in this area.Methods We collected the basic information of 4 063 subjects in Taoyuan County Maternal and Child Health Hospital from July 2020 to June 2022.The genotypes of of sites rs1801133 and rs1801131 of 5,10-methylenetetrahydrofolate reductase(MTHFR)and rs1801394 of methionine synthase reductase(MTRR)and blood Hcy levels in peripheral blood were collected for further analysis.Results The distribution of folate metabolizing enzyme gene polymorphisms in the tested population was consistent with Hardy-Weinberg genetic balance.MTHFR rs1801133 and rs1801131 had linkage disequilibrium(D'=0.98,r2=0.14).The frequency of CC,CT and TT genotype of MTHFR rs1801133 gene was 42.31%,44.47%and 13.22%.The frequency of AA,AC and CC genotype of MTHFR rs1801131 gene site was 62.15%,33.20%and 4.65%respectively.The frequency of AA,AG and GG genotype of MTRR rs1801394 gene site was 55.06%,38.59%and 6.35%respectively.There was no difference in Hcy level between different folate metabolism genotypes and among people at different risk of folate metabolism disorder(P＞0.05),but the Hcy level in men with the same folate metabolism genotype or folate metabolism disorder risk was significantly higher(P＜0.001).The Hcy level of under 35 years old was higher in MTHFR rs1801133 CC genotype,rs1801131 AC and CC genotype(P＜0.05).Conclusion The distribution of folic acid metabolic enzyme gene polymorphisms in this region has its own characteristics.In the future,it is necessary to pay special attention to pre-pregnancy men and young people(＜35 years old)in combination with genetic factors and environmental factors,and conduct folic acid supplementation guidance and monitoring,which may become an important way to further reduce newborn birth defects.
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