Association of Fetal MTHFR 677C &gt; T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis

Amooee, Abdolhamid; Dastgheib, Seyed Alireza; Niktabar, Seyed Mohammadreza; Noorishadkam, Mahmood; Lookzadeh, Mohamad Hosein; Mirjalili, Seyed Reza; Neámatzadeh, Hossein

doi:10.1080/15513815.2019.1707918

Cited by 8 publications

(3 citation statements)

References 51 publications

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“…Some studies (Li et al, 2020;Luo et al, 2012;Pan et al, 2015;Pan et al, 2012;Rai 2018;Shu et al, 2019;Zhao et al, 2014) reported that MTHFR C677T polymorphism was signi cantly associated with NSCL/P risk in Asian, Caucasian and Mixed populations, whereas Lmani et al (Imani et al, 2020) found that there was no signi cant association based on the ethnicity or the source of cases. And according to Amooee's research (Amooee et al, 2019), the result of strati ed analysis by country of origin revealed a signi cant association in Brazilian, Turkish and Indian populations, but not in US-American and Chinese.…”

Section: Discussionmentioning

confidence: 97%

Association between MTHFR C677T polymorphism and the susceptibility to nonsyndromic cleft lip with or without cleft palate in Chinese Han population: a case-control study and meta-analysis

Deng

Liu³

et al. 2021

Preprint

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Background: Functional polymorphisms on methylenetetrahydrofolate reductase (MTHFR) gene are reported to be involved in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P), but the conclusions are still inconsistent. The aim of our study is to investigate the association between the susceptibility of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and MTHFR C677T polymorphism in Chinese Han population．Methods: A case-control study was performed, followed by a Meta-analysis. Electronic databases including PubMed, Embase, CNKI, VIP and Wanfang database were searched for relevant literature from inception of databases to November 2020. Meta-analysis was performed using Revman 5.3 and STATA 12.0 software. Results: The case-control study included 358 NSCL/P cases and 354 controls, which indicated that the variant T allele significantly increased NSCL/P risk in Southern China. Then, in the present Meta-analysis, a total of nine case-control studies with 1444 cases and 1555 controls were included. Overall, there was a significant association between MTHFR C677T polymorphism and NSCL/P susceptibility under all genetic models. The subgroup analysis of NSCL/P types showed significantly increased risk of CLO but not CPO or CLP. In terms of the stratified analysis by geographical location, a significantly association was observed in Southern China under all genetic models, while there was no significant association in Northern China. Sensitivity analyses, Begg's funnel plot and Egger’s regression test further suggest the stable and trustworthy of these results. Conclusion: MTHFR C677T polymorphism is associated with the risk of NSCL/P in Chinese Han population, especially increasing the risk of NSCL/P in southern Chinese Han populations.

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Section: Discussionmentioning

confidence: 97%

Association between MTHFR C677T polymorphism and the susceptibility to nonsyndromic cleft lip with or without cleft palate in Chinese Han population: a case-control study and meta-analysis

Deng

Liu³

et al. 2021

Preprint

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“…During the years 2007 to 2020, there were 15 meta-analyses concerning MTHFR C677T and A1298C polymorphisms and CL/P. Among them, 12 studies concerned C677T; nine studies suggested an increased risk for CL/P ( 26-34 ), whereas the other three studies denied the association ( 35-37 ). Most studies have thus suggested that the C677T polymorphism is likely to increase the risk for CL/P, which disagrees with our findings.…”

Section: Discussionmentioning

confidence: 99%

“…It is possible that our present sample size was not large enough to observe the association, and we therefore combined the patients examined by Tohoku University in a previous Japanese cohort with our present results in order to increase the sample number ( 26 ). We observed no significant difference in the allele frequencies or dominant genetic model frequency (C vs. T, case n=411, control n=317, odds ratio=0.954, 95% CI: 0.845-1.076, P-value=0.694; dominant model, cases n=205, control n=162, odds ratio=0.984, 95% CI: 0.830-1.168, P-value=0.926).…”

Section: Discussionmentioning

confidence: 99%

5,10‑Methylenetetrahydrofolate reductase (<em>MTHFR</em>) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate

et al. 2020

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Cleft lip with or without cleft palate (CL/P) is considered a multifactorial genetic disorder. Folic acid metabolism has been suggested to underlie the development of CL/P. The gene for the enzyme 5,10-methylentetrahydrofolate reductase ( MTHFR ) contributes to folic acid metabolism, and polymorphisms of this gene at C677T (rs1801133) and A1298C (rs1801131) are reported to alter its enzyme activity and are suggested to be involved in CL/P development. We investigated C677T and A1298C polymorphisms of the MTHFR gene in Japanese patients with nonsyndromic CL/P and cleft palate only (CPO). We examined 240 patients with CL/P, 103 fathers and 153 mothers of the patients, and 68 healthy controls. Restriction fragment length polymorphisms (RFLPs) of C677T and A1298C of MTHFR were analyzed. We determined the frequencies of the polymorphisms in the patients and controls and performed a transmission equilibrium test and haplotype analysis of both MTHFR C677T and A1298C. There were no significant differences in the frequencies of MTHFR C677T and A1298C polymorphisms between the patients and controls. We did not observe transmission equilibrium or linkage equilibrium among the cases. In this experimental condition, we did not detect an association of MTHFR C677T and/or A1298C polymorphisms with the development of CL/P in this Japanese cohort.

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The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility

Askarian

Gholami

Khalili-Tanha

et al. 2022

Oral Maxillofac Surg

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Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis

Cited by 8 publications

References 51 publications

Association between MTHFR C677T polymorphism and the susceptibility to nonsyndromic cleft lip with or without cleft palate in Chinese Han population: a case-control study and meta-analysis

Association between MTHFR C677T polymorphism and the susceptibility to nonsyndromic cleft lip with or without cleft palate in Chinese Han population: a case-control study and meta-analysis

5,10‑Methylenetetrahydrofolate reductase (<em>MTHFR</em>) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate

The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility

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