Abstract

This paper discussed the association between the polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene C677T and congenital heart disease (CHD). Methods: We developed literature with inclusion and exclusion criteria, and searching strategy in the meta-analysis. Studies related to the association between MTHFR C677T polymorphism of parents or progeny and CHD were identified by a search through PubMed, CNKI, CBN, and Springer Link databases, and their qualities were evaluated. Heterogeneity of these results was tested through Review Manager version 5.3.3. Appropriate effect models based on the heterogeneity were selected to complete the meta-analysis. Results: A total of 27 eligible studies (2800 cases from 3720 controls in progeny, and 2238 cases from 17175 controls in maternity) were evaluated. Statistical association was found between MTHFR gene (677 points TT/CC gene variant in maternity) and CHD risk in progeny (Odds ratio (OR) = 1.41 (1.16, 1.70), 95% confidence interval (CI) = p 0.05, respectively. In addition, MTHFR gene (677 points TT/CC) in progeny was related to CHD risk, as well as CT/CC (OR = 1.57 (1.22, 2.02), and 1.20 (1.03, 1.39), respectively, 95% CI = p < 0.05). Results show that MTHFR C677T polymorphism is associated with CHD risk. Conclusions: Furthermore, mutations of homozygous and heterozygous (TT/CC and CT/CC, respectively) MTHFR C677T in progeny, and those of homozygous MTHFR C677T (TT/CC) in maternity are risk factors of CHD.

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