[Geographical distribution characteristics of one carbon metabolic pathway related single nucleotide polymorphisms]

To analyze geographical distribution characteristics of folate metabolism related single nucleotide polymorphisms.

This work made a statistical analysis of MTHFR and MTRR gene polymorphism distribution about Chinese Han and minority childbearing age women in 16 provinces and 2 municipalities from 64 published Chinese literatures, depicted the regional distributive characteristics of the two gene polymorphisms, and analyzed the association with neural tube defects status for a long time in China.

By summarizing and analyzing single nucleotide polymorphisms of MTHFR C677 T in Chinese Han and minority childbearing age women in 16 provinces and 2 municipalities, the results showed that MTHFR 677 TT and 677 T allele frequency increased steadily from south to north, MTHFR 1298 CC occupied a very small proportion. Through interaction analysis of A1298 C and C677 T, the result showed that two genes presented a linkage imbalance, and TT/AA frequency distribution presented a gradually decreasing trend from north to south, and there were no TT/AC, TT/CC, and CT/CC nationwide, it was found that MTRR 66 AA accounted from 34% to 58%, with the northern part slightly higher than the southern part. And MTRR 66 GG was between 5% and 17%.

We could pay attention to gene polymorphism risk assessment to reduce neural tube defects for childbearing age women, in order to provide powerful human genetics data support for improving the birth population quality and national public health policy.