生殖医学杂志2026，Vol.35Issue(1)：58-63,6.DOI:10.3969/j.issn.1004-3845.2026.01.009
120例产妇MTHFR C677T基因多态性分布特点及与非综合征性唇腭裂的关系
Distribution characteristics of MTHFR C677T gene polymorphism in 120 parturients and its relationship with non-syndromic cleft lip and palate
摘要
Abstract
Objectives:To investigate the relationship between the distribution characteristics of C677T polymorphism in the methylenetetrahydrofolate reductase(MTHFR)gene in puerpera and the risk of non-syndromic cleft lip and palate(NSCL/P),providing a theoretical basis for the etiology research and prevention of cleft lip and palate during pregnancy. Methods:A total of 120 puerpera seeking for the service of pregnancy and delivery in Shijiazhuang Fourth Hospital from December 2021 to December 2024 were recruited as subjects.Puerpera who gave birth to children with NSCL/P were assigned to the case group(n=60),and those who gave birth to healthy babies as the control group(n=60).Potential confounding factors such as folate supplementation,pre-pregnancy body mass index(BMI)and smoking exposure during pregnancy were collected and compared between the two groups via questionnaire.Peripheral blood samples were collected,and real-time fluorescence quantitative polymerase chain reaction(PCR)was used to detect the distribution of MTHFR C677T genotypes(CC,CT,TT)in the peripheral blood of the two groups.The differences in genotype and allele frequency distribution between the two groups were compared,and the influence of gene polymorphism on NSCL/P was analyzed by logistic regression. Results:There were no significant differences in age,pre-pregnancy BMI,regular folate supplementation rate of folic acid and smoking exposure during pregnancy between the case and control groups(P＞0.05).The proportions of CC,CT,and TT genotypes in the case group were 35.00％(21/60),45.00％(27/60),and 20.00％(12/60),respectively,while in the control group they were 51.67％(31/60),40.00％(24/60),and 8.33％(5/60),respectively.The TT genotype frequency in the case group was significantly higher than that in the control group(x2=6.32,P=0.012).The T allele frequency in the case group was 42.50％(51/120),significantly higher than 28.33％(34/120)of the control group(x2=8.15,P=0.004).Logistic regression analysis results showed that the risk of giving birth to a newborn with NSCL/P in puerpera with the TT genotype was 3.12 times that of those with the CC genotype[OR=3.12,95％CI(1.28,7.59)],while the risk associated with the T allele was 1.82 times that of the C allele[OR=1.82,95％CI(1.21,2.74)]. Conclusions:TT genotype and T allele of the MTHFR C677T significantly increased the risk of NSCL/P and were important genetic risk factors.With regard to high-risk pregnant women,strengthening supplementation of folic acid and genetic screening can help reduce the risk of fetal cleft lip and palate.关键词
MTHFR基因/非综合征性唇腭裂/C677T多态性/基因型/叶酸代谢Key words
MTHFR gene/Non-syndromic cleft lip and palate/C677T polymorphism/Genotype/Folate metabolism分类
医药卫生引用本文复制引用
王科,彭园园,张晶,王思雯,董伟..120例产妇MTHFR C677T基因多态性分布特点及与非综合征性唇腭裂的关系[J].生殖医学杂志,2026,35(1):58-63,6.基金项目
2024年石家庄市科学技术研究与发展自筹计划项目(2412007103) （2412007103）
