ORIGINAL RESEARCH article
Front. Genet.
Sec. Applied Genetic Epidemiology
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
Provisionally accepted
- 1The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China
- 2Department of Genetic Laboratory, Baoji Maternal and Child Health Hospital, Baoji, Shaanxi, China, Baoji, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
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.
Keywords: Shaanxi province, Women of childbearing age, MTHFR C677T, Genetic polymorphism, geographical distribution
Received: 27 Aug 2025; Accepted: 04 Nov 2025.
Copyright: © 2025 Chen, Song, Sun, Yi and Ma. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Wenbing Ma, mawenbing@xjtu.edu.cn
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.