Department of Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Pediatrics, Yazd Branch, Islamic Azad University, Yazd, Iran.
Fetal Pediatr Pathol. 2021 Feb;40(1):1-17. doi: 10.1080/15513815.2019.1683918. Epub 2019 Nov 4.
Several studies have evaluated association of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene 1298A > C polymorphism with non-syndromic cleft lip with or without palate (NSCL ± P) susceptibility, however the results are inconsistent.
To address this issue, we performed a case-control study to evaluate the association of MTHFR 1298A > C polymorphism with NSCL ± P risk, followed by a meta-analysis.
Including our study, a total of 22 case-control studies with 2,814 cases and 4,199 controls were selected. The results suggested that there was no significant association between MTHFR 1298A > C polymorphism and NSCL ± P risk overall. The subgroup analysis demonstrated that the polymorphism was significantly associated with NSCL ± P risk in Asians and Iranian populations, but not in Caucasians, mixed and Chinese populations.
This meta-analysis indicates that MTHFR 1298A > C polymorphism may not contribute to NSCL ± P risk in overall. However, the MTHFR 1298A > C polymorphism was significantly associated with an increased risk of NSCL ± P in Asians and Iranian populations.
多项研究评估了 5,10-亚甲基四氢叶酸还原酶（MTHFR）基因 1298A>C 多态性与非综合征性唇裂伴或不伴腭裂（NSCL±P）易感性之间的关联，但结果不一致。
为解决这一问题，我们进行了一项病例对照研究，以评估 MTHFR 1298A>C 多态性与 NSCL±P 风险的关联，随后进行了荟萃分析。
包括我们的研究在内，共有 22 项病例对照研究，纳入 2814 例病例和 4199 例对照。结果表明，MTHFR 1298A>C 多态性与 NSCL±P 风险总体无显著相关性。亚组分析表明，该多态性与亚洲人和伊朗人群的 NSCL±P 风险显著相关，但与高加索人、混合人群和中国人群的 NSCL±P 风险无关。
本荟萃分析表明，MTHFR 1298A>C 多态性可能与总体 NSCL±P 风险无关。然而，MTHFR 1298A>C 多态性与亚洲人和伊朗人群 NSCL±P 风险增加显著相关。
