Distribution characteristics of MTHFR C677T gene polymorphism in Han nationality and women of childbearing age in 8 regions of Shaanxi province and a comparative analysis with other regions in China
Year: 2025
Type: article
Study design: Observational Study
Abstract: Objective: To analyze the distribution characteristics of MTHFR C677T gene polymorphism in Shaanxi Province, thereby providing a genetic basis for folic acid supplementation strategies and the reduction of adverse pregnancy outcomes among reproductive-aged women in this region. Methods: A total of 8,779 Han women of childbearing age were recruited from the First Affiliated Hospital of Xi'an Jiaotong University and Baoji Maternal and Child Health Hospital for MTHFR C677T genotyping. The genotype and allele distribution patterns across eight regions in Shaanxi were systematically compared with domestic and international populations. Results: In the Shaanxi Province, the genotype frequencies of MTHFR C677T polymorphism ranked as follows: CT (48.49%), TT (29.22%), and CC (22.29%). Allelic frequencies were 46.54% (C) and 53.46% (T). Significant regional variations in MTHFR C677T genotype frequencies (P < 0.05) were observed among the eight prefectures of Shaanxi. Notably, the Xi'an region exhibited distinct genotype and allele distribution patterns compared to most reported Chinese populations (P < 0.05). Conclusion: There are significant interregional differences in the distribution of MTHFR C677T genotypes and alleles across Shaanxi Province. The genetic polymorphism pattern of MTHFR C677T genotypes and allele frequencies in Han women of reproductive age in Xi'an is significantly distinct from that in many other regions.
Source: Frontiers in Genetics
Authors: Ting Chen, Fei Song, Jinyao Sun, Jing Yi, Wenbing Ma
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4416815367