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Background: A few studies have been conducted to explore the association of MTHFR A1298C (rs1801131) polymorphism with preterm birth risk, the results remain inconsistent. Therefore, we conducted a meta-analysis to derive a more systematic estimation of the association.
Method: Relevant studies were searched by PubMed, EMBASE, CNKI, and Google Scholar up to June 2018. The strength of the association of MTHFR A1298C polymorphism with preterm birth was calculated by odds ratios (OR) with 95% confidence interval (95%CI).
Results: A total of nine case-control studies with 1,609 cases and 14,981 controls were included. Pooled results showed that there was no significant association between MTHFR A1298C polymorphism and preterm birth risk under all five genetic models in overall. However, in the stratified analysis of ethnicity, a significant association between MTHFR A1298C polymorphism and preterm birth risk was observed in the Asians under four genetic models, i.e., allele (C vs. A: OR = 0.960, 95% CI 0.543-0.871, P = 0.002), heterozygote (CA vs. AA: OR = 0.887, 95% CI 0.024-0.457, P = 0.003), dominant (CC+CA vs. AA: OR = 0.965, 95% CI 0.534 -0.935, P = 0.015) and recessive (CC vs. CA+AA: OR = 0.923, 95% CI 0.026-0491, P = 0.004), but not in Caucasians.
Conclusion: This meta-analysis suggested that MTHFR A1298C polymorphism is not associated with preterm birth risk in overall population. However, MTHFR A1298C polymorphism plays an important role in preterm birth development in Asian population.
Keywords: Preterm Birth, MTHFR Gene, Polymorphism, Meta-analysis