精准医学杂志 (Feb 2023)
DISTRIBUTION OF MTHFR C677T, A1298C POLYMORDHISMS, AND MTRR A66G POLYMORPHISMS IN HAN WOMEN IN JIA COUNTY, CHINA
Abstract
Objective To analyze the distribution characteristics of the gene polymorphisms of key enzymes related to folate metabolism [5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR)] in women of reproductive age of the Han nationality in Jia County, China, and to provide a reference for folate supplementation for pregnant women. Methods A total of 554 women who underwent examinations during pregnancy in Jia County Maternal and Child Health Hospital from 2017 to 2019 were enrolled. Oral mucosal cell samples were collected from them, followed by DNA extraction. PCR was used to examine MTRR (A66G) and MTHFR (A1298C and C677T) polymorphisms. Results The distribution of polymorphisms of all the samples accorded with the law of genetic equilibrium. The proportions of TT, CT, and CC genotypes at the C677T locus of the MTHFR gene were 42.8%, 43.3%, and 13.9%, respectively. The proportions of AA, AC, and CC ge-notypes at MTHFR A1298C were 77.3%, 22.0%, and 0.7%, respectively. The proportions of AA, AG, and GG genotypes at MTRR A66G were 56.7%, 36.6%, and 6.7%, respectively. There were seven combinations of MTHFR C677T and A1298C ge-notypes among the Han women of reproductive age in Jia County. TT/AA was the most frequent combination, which accounted for 42.8%. No TT/AC or TT/CC combination was found. There was a strong linkage disequilibrium between the two loci (D'=0.984,r2=0.233). Conclusion Different from those of Han women in other regions, Han women of reproductive age in Jia County show regional specificity in MTHFR and MTRR polymorphisms. There is a high proportion of the TT genotype at MTHFR C677T, with which genotype women should appropriately increase the dose and duration of folate supplementation according to actual situation during pregnancy.
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