Maternal and infant MTHFR gene polymorphisms and non-syndromic oral cleft susceptibility: An updated meta-analysis

Lakkakula, Bhaskar V.K.S.; Sengupta, Shubham; Agrawal, Jayant; Singh, Shivani; Mendhey, Prachi; Jangde, Pratik; Sharma, Anurag; Pande, Prashant Anand; Krishan, Payal; Shukla, Priyanka; Momin, Saimila; Nagaraju, Ganji Purnachandra; Pattnaik, Smaranika

doi:10.1016/j.procbio.2019.10.010

Cited by 2 publications

(2 citation statements)

References 67 publications

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“…These variant genotypes are associated with increased thermolability and substantial diminution of activity of the enzyme in vitro (Narayanan et al, 2004). The C677T polymorphism leads to major conformational changes within the tertiary structure of MTHFR, resulting in a significant reduction in its FAD‐binding affinity while the A1298C mutation alters the MTHFR activity to a lesser extent (Lakkakula et al, 2020).…”

Section: Methods and Analysismentioning

confidence: 99%

Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta‐analyses

Zhou

Sinnathamby

et al. 2020

Birth Defects Research

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Background There has been a longstanding debate about the role of folate in the etiology of orofacial clefts (OFCs). Studies of different measures of nutritional intake or folate status have been done to investigate the possible role of folate in the prevention of OFC. Only one knowledge synthesis has attempted to bring together different types of evidence. The aim of the present work was to update it. Methods Evidence for associations between OFC and dietary folate, supplement use, folic acid fortification, biomarkers of folate status, and variants of MTHFR (C677T and A1298C) were included. Potentially eligible articles were systematically identified from PubMed, Medline, Embase, and Web of Science (2007–2020) and combined using random‐effects meta‐analysis when appropriate. Quality assessments were conducted using the Newcastle‐Ottawa scale and Cochrane's risk of bias tool. Results Sixty‐four studies published since the previous knowledge synthesis were identified, with eight of these identified through a supplementary search from October, 2018 to August, 2020. There was an inverse association between folic acid‐containing supplement use before or during pregnancy and cleft lip with or without cleft palate (CL/P) (OR 0.60, 95% CI 0.51–0.69), with considerable between‐study heterogeneity. The prevalence of CL/P showed a small decline post‐folic acid fortification in seven studies (OR 0.94, 95% CI 0.86–1.02). No association was found between OFC and genetic markers of folate status. The coronavirus‐19 pandemic has threatened food availability globally and therefore there is a need to maintain and even enhance surveillance concerning maternal intake of folate and related vitamins. Conclusions The risk of non‐syndromic OFC was reduced among pregnant women with folic acid‐containing supplements during the etiologically relevant period. However, high heterogeneity between included studies, incomplete reporting of population characteristics and variation in timing of exposure and supplement types mean that conclusions should be drawn with caution.

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Section: Methods and Analysismentioning

confidence: 99%

Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta‐analyses

Zhou

Sinnathamby

et al. 2020

Birth Defects Research

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“…Recent studies have shown that folic acid may have a protective effect and reduce the rate of oral clefts (Gildestad et al, 2015; Mendonca, 2019). In addition, genetic variants in the folate metabolic pathway have been examined for NSCLP (Bhaskar et al, 2011; Murthy et al, 2014a; Lakkakula et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis

Purohit

Lakkakula²,

Verma

et al. 2021

The Cleft Palate-Craniofacial Journal

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Introduction Non-syndromic cleft lip and palate (NSCLP) is one of the most common and challenging congenital deformities worldwide. Previous research has linked the methylenetetrahydrofolate dehydrogenase1 (MTHFD1) gene to orofacial cleft (OFC) susceptibility via a complex metabolism. Studies analyzing the MTHFD1 1958G > A variant and NSCLP are contradictory. This study aims to evaluate the association between the MTHFD1 1958G > A variant and NSCLP by meta-analysis. Methods PubMed, Web of Science, MEDLINE, and Google Scholar databases were searched to retrieve the eligible studies. A fixed- or random-effect model was used to calculate pooled odds ratio (OR) and 95% confidence interval (CI). All analyses were calculated by Metagenyo software. To detect heterogeneity, the Cochrane Q and I2 statistics were used. The publication bias was estimated using funnel plots and Egger’s test. Results Our study suggested that the MTHFD1 1958G > A variant allele “A” does not appear to increase the risk of NSCLP (A vs G random effect model: Overall P = .501, OR = 1.07, CI = 0.88–1.31; Asians P = .245, OR = 1.29, CI = 0.84–1.97; Caucasians P = .658, OR = 0.95, CI = 0.76–1.19). Similarly, mutant genotypes also did not exhibit increased risk for NSCLP in the overall populations as well in subgroup analysis by ethnicity (AA + AG vs GG: Overall P = .684, OR = 1.06, CI = 0.80–1.39; Asians P = .240, OR = 1.47, CI = 0.77–2.78; Caucasians P = .923, OR = 0.99, CI = 0.85–1.16). Conclusions Our data suggest no association between the MTHFD1 1958G > A variant and NSCLP. Additional well-designed studies are needed to better understand the role of MTHFD1 polymorphisms in the etiopathogenesis of NSCLP.

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Maternal and infant MTHFR gene polymorphisms and non-syndromic oral cleft susceptibility: An updated meta-analysis

Cited by 2 publications

References 67 publications

Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta‐analyses

Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta‐analyses

Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis

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