Regional distribution of the MTHFR C677T polymorphism in Chinese females

Objective: For analyzing the distribution characteristics of MTHFR C677T polymorphism in Chinese females in order to provide information for reducing birth defects and formulating public health policies to prevent congenital malformations. Methods: Literature search in the last 6 years on “MTHFR C677T,” “polymorphism” and “methylene tetrahydrofolate reductase.” The included literature provides the MTHFR C677T frequency in healthy females in the corresponding regions. The data were grouped by the national administrative region as a unit to obtain the distribution information of the MTHFR C677T and alleles in the female population in every province, municipality or autonomous region. This was done for analyzing the overall distribution of the MTHFR C677T allele and the geographical distribution of pregnancy complications. Results: A total of 126 studies were included, covering five autonomous areas, four municipalities directly under the Central Government, as well as 22 provinces (except Taiwan Province) in China. MTHFR C677T polymorphism data of 27 groups of Chinese Han women and 31 groups of other Chinese females were obtained, and the chi-square test revealed notable inter-group differences (p = 0.000). The TT genotype and T allele of MTHFR C677T accounted for 18.2% (4.7%–38.3%) and 40.3% (19.7%–61.4%) of the Chinese female population, respectively, with a significant north-south difference. Chinese females had a consistent frequency of the T allele with the geographical distribution of pregnancy complications such as recurrent abortion and preeclampsia. Conclusion: With a obvious geographical gradient, the MTHFR C677T polymorphism distribution in Chinese females is consistent with the geographical distribution of multiple pregnancy complications, and the risk assessment for it might be included in primary prevention for birth defects.