Association of MTHFR 1298A &gt; C Polymorphism with Susceptibility to Non-Syndromic Cleft Lip with or without Palate: A Case-Control Study and Meta-Analysis

Niktabar, Seyed Mohammadreza; Aarafi, Hossein; Dastgheib, Seyed Alireza; Noorishadkam, Mahmood; Mirjalili, Seyed Reza; Lookzadeh, Mohamad Hosein; Akbarian-Bafghi, Mohammad Javad; Morovati-Sharifabad, Majid; Neámatzadeh, Hossein

doi:10.1080/15513815.2019.1683918

Cited by 13 publications

(7 citation statements)

References 35 publications

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“…Most studies have thus suggested that the C677T polymorphism is likely to increase the risk for CL/P, which disagrees with our findings. Regarding the A11298C polymorphism, there are seven studies and six of them suggested no association with CL/P ( 27 , 29 , 34 , 36 , 38 , 39 ), which is consistent with our findings. There is a single study that suggested an association between A1298C and CL/P ( 30 ).…”

Section: Discussionsupporting

confidence: 92%

“…Most of the studies mentioned the heterogeneity of the association due to the different ethnicities of the subjects. They also noted that environmental factors such as alcohol consumption, smoking habits, and maternal folic acid supplementation are important ( 37 , 38 , 40 ). According to the meta-analyses conducted to date, in Asians, C677T T allele or recessive genotype TT tends to be a risk for CL/P.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 92%

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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“…Moreover, after subgroup an analysis, heterogeneity was obviously decreased in Asians; however, the corresponding pooled ORs were not materially altered after deleting these studies, indicating that our results were statistically robust. Publication bias is another key factor that might affect the quality of a meta-analysis (Niktabar et al, 2019;Veisian et al, 2019). Both Begg's and Egger's test were used to assess publication bias in this study.…”

Section: Discussionmentioning

confidence: 99%

Association of IL-12B rs3212227 and IL-6 rs1800795 Polymorphisms with Susceptibility to Cervical Cancer: A Systematic Review and Meta-Analysis

Karimi-Zarchi¹,

Abbasi²,

Javaheri³

et al. 2020

Asian Pac J Cancer Prev

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Cervical cancer is the second most commonly diagnosed malignancy and third leading cause of cancer-related mortality among women in less developed countries (Karimi Zarchi et al., 2010; Mousavi et al., 2008). According to GLOBOCAN, cervical cancer accounts for 528,000 new cases and 266,000 deaths worldwide in 2012 (Parkin et al., 2005). Although, it has been widely accepted for several decades that Human papillomavirus (HPV) is the main risk factor for development of cervical cancer (Behtash et al., 2009; Farbod et al., 2019; Ghaemmaghami et al., 2008), HPV infections have developed to persistent infection in only a very few cases and it is sufficient to induce cervical cancer in an even smaller proportion

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“…The study was approved by the local ethics committee and the subjects' informed consent was obtained. The genetic analysis of the MTHFR C677T (rs1801133) polymorphism was performed by the matrix assisted laser desorption ionization time of ight mass spectrometry, MALDI-TOF-MS. Statistical analyses were conducted using SPSS 13.0 software as described (Niktabar et al, 2019): Hardy-Weinberg equilibrium (HWE) value of the control group was calculated by a goodness-of-t χ 2 test; differences in genotypes and alleles frequencies between NSCL/P cases and controls were compared by chi-squared (χ 2 ) test; the relative risk was assessed by Odds ratios (OR) and 95% con dence interval (CI); in addition, transmission disequilibrium test (TDT) analysis in Affected Person-Parent Trios was also performed.…”

Section: Case-control Study 211 Study Populationmentioning

confidence: 99%

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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Association of MTHFR 1298A > C Polymorphism with Susceptibility to Non-Syndromic Cleft Lip with or without Palate: A Case-Control Study and Meta-Analysis

Cited by 13 publications

References 35 publications

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

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

Association of IL-12B rs3212227 and IL-6 rs1800795 Polymorphisms with Susceptibility to Cervical Cancer: A Systematic Review 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

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