Distribution of folate metabolism gene polymorphisms in women in pregnancy in Gejiu area of Yunnan province
AIM To investigate the distribution of gene polymorphisms of methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)among women in pregnancy in Gejiu of Yunnan province,and provide the scientific basis for clinicians to guide individualized folate supplementation programs for women in pregnancy.METHODS 713 women of childbearing age in Gejiu area of Yunnan province from January to December 2022 were selected as the study subjects.The genotypes of MTHFR C677T,A1298C and MTRR A66G loci were detected by real-time quantitative PCR melting curve method.The distribution characteristics of gene polymorphism were analyzed,and the genotype frequency was compared with that of Chinese population in other regions.The risk of folate metabolism in women in pregnancy in Gejiu area of Yunnan province was evaluated according to the genotype results.RESULTS The frequencies of MTHFR C677T loci in all samples were 46.4％,41.1％and 12.5％,respectively,for wild-type(CC),heterozygous mutant(CT)and homozygous mutant(TT)genotypes.The genotype frequency of wild-type(AA),heterozygous mutant(AC)and homozygous mutant(CC)of MTHFR A1298C locus were 67.5％,28.8％and 3.7％respectively.The genotype frequency of MTRR A66G wild type(AA),hybrid mutant(AG)and homozygous mutant(GG)were 54.7％,40.3％and 5.0％,respectively.The genotype distribution of MTHFR C677T,A1298C,and MTRR A66G loci showed statistically significant differences compared to the Chinese population(P＜0.05).CONCLUSION The distribution of MTHFR C677T,A1298C and MTRR A66G gene polymorphisms in women in pregnancy in Gejiu area of Yunnan province is regionally specific,with 41.21％of women in pregnancy carrying medium and high-risk genes related to folate metabolism.The results of folate metabolism genetic testing can provide a scientific basis for the folate supplementation program during pregnancy,which can help pharmacists provide individualized and precise drug guidance to reduce birth defects.
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