Relationship between Birth Defects and Gene Polymorphism of Folate Me-tabolites and Key Enzymes in Newborns

GAO Guizhen; DAI Liang; LI Min; ZHAO Jing; LIU Ying

doi:10.3969/j.issn.1002-3429.2023.09.017

Abstract：Objective To explore the relationship between birth defects and gene polymorphism of folate metabolites and key enzymes in newborns.Methods A total of 174 women who gave birth to newborns with birth defects and 150 women who gave birth to healthy newborns between March 2018 and September 2022 were selected as research group and control group,respectively.General maternal data of the two groups were collected.The gene polymorphisms of G1958A locus of methylene tetrahydrofolate dehydrogenase 1(MTHFD1)gene,the C677T and A1298C loci of 5,10-methylene tetrahydrofo-late reductase(MTHFR)gene,the A2756G locus of methionine synthetas(MTR)gene,A66G locus of methionine synthase reductase(MTRR)gene and A80G locus of cell membrane reduced folate carrier(RFC)gene were detected by PCR restric-tion fragment length polymorphism(RFLP).The relationship between maternal gene polymorphisms and birth defects of new-borns was analyzed.Results The proportion of G allele at A66G locus of MTRR gene and G allele at A80G locus of RFC gene in research group was higher than that in control group(P＜0.05,P＜0.01).The difference in the genotype of A66G locus of MTRR gene was statistically significant in dominant and co-dominant models(P＜0.01).The difference in A80G lo-cus of RFC gene was statistically significant in recessive and co-dominant models(P＜0.05).The combined analysis of A66G locus of MTRR gene and A80G locus of RFC gene showed significant difference between AA/GG type,AG/AG type and ho-mozygous AA/AA type(P＜0.01).Multivariate Logistic regression analysis showed that history of folic acid consumption,MTRR gene A66G locus polymorphism and RFC gene A80G polymorphism were independent risk factors for birth defects(P＜0.05,P＜0.01).Conclusion Folic acid metabolism-related genes MTRR and RFC are associated with birth defects in newborns.Clinical detection of maternal related gene polymorphism can assess folic acid utilization ability,and then assess the risk of birth defects in newborns.