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Genetic polymorphism study of the folate metabolizing enzymes, such as methylenetetrahydrofolate reductase and methionine synthase reductase, of women of childbearing age in the central districts of Chongqing |
The Fifth People’s hospital of Chongqing, Chongqing, 400062 |
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Abstract To explore the genetic polymorphism distribution of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes of women of childbearing age in the central districts of Chongqing, and to evaluate the rank characteristic of the risk of folic acid utilization of the women by the folate metabolizing enzymes gene polymorphism analyzed. Methods: A total of 963 women who came to the hospital for pregnancy tests were selected as the study subjects from February 2022 to October 2023. The c.677C >T locus and c.1298A >C locus of MTHFR genotypes and the MTRRc.66A >G locus of MTRR of the women were detected by ligase sequencing. The gene polymorphism of the women was analyzed to evaluate the risk of the folic acid utilization of the women. Results: The genotype frequencies of MTHFR c.677C>T CC, CT and TT of the women were 53.1%, 37.5% and 9.4%, respectively, and the allele frequencies of C and T of the women were 71.8% and 28.2%. The gene frequencies of MTHFR c.1298A>C AA, AC and CC of the women were 61.4%, 34.3% and 4.3%, respectively, and the allele frequencies of A and C of the women were 78.5% and 21.5%. The genotype frequencies of AA, AG and GG of MTRR c.66A>G of the women were 52.9%, 38.6% and 8.5%, respectively, and the allele frequencies of A and G of the women were 72.2% and 27.8%. Compared with those of the women in the other regions, the gene polymorphisms of MTHFR c.677C>T and c.1298A>C had significant regional differences, while the gene polymorphisms of MTRR c.66A>G of the women had no significant regional differences. The proportions of the medium and high risk of the folic acid utilization of the women were 43.3% and 9.7%. The linkage and haplotype analysis of MTHFR c.677C>T and c.1298A>C showed the linkage disequilibrium between MTHFR c.677C>T and c.1298A>C. Conclusion: The distribution of MTHRF and MTRR genetic polymorphisms of the women of childbearing age in the central districts of Chongqing shows the regional characteristic. The proportions of the medium and high risk of the folic acid utilization of the women with MTHRF and MTRR genetic polymorphisms are higher.
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