&lt;p&gt;MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population&lt;/p&gt;

Rafik, Amine; Rachad, Laila; Kone, Abdou-samad; Nadifi, Sellama

doi:10.2147/tacg.s194166

Cited by 10 publications

(6 citation statements)

References 17 publications

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“…In addition, TT + CT genotype was reported to have a significantly increased risk in five studies 34,39,44,46,52 and significantly decreased risk in four studies 36,47,55,57 in NSCL/P patients compared with controls. Based on the recessive model, three studies 39,46,54 reported significantly increased risk of TT genotype and one study 57 reported its significantly decreased risk in NSCL/P patients compared with controls.…”

Section: Discussionmentioning

confidence: 97%

“…Out of 31 studies included in the present meta-analysis, six studies 27,34,39,44,45,52 , five studies 34,39,44,46,52 , and four studies 34,39,46,52 reported significantly increased risk of T allele, TT genotype, and CT genotype in NSCL/P patients compared with controls, respectively. Also, five studies 36,47,49,55,57 , two studies 47,57 , and four studies 28,36,47,57 reported a significantly decreased risk of T allele, TT genotype and CT genotype in NSCL/P patients compared with controls, respectively. In addition, TT + CT genotype was reported to have a significantly increased risk in five studies 34,39,44,46,52 and significantly decreased risk in four studies 36,47,55,57 in NSCL/P patients compared with controls.…”

Section: Discussionmentioning

confidence: 99%

“…Also, five studies 36,47,49,55,57 , two studies 47,57 , and four studies 28,36,47,57 reported a significantly decreased risk of T allele, TT genotype and CT genotype in NSCL/P patients compared with controls, respectively. In addition, TT + CT genotype was reported to have a significantly increased risk in five studies 34,39,44,46,52 and significantly decreased risk in four studies 36,47,55,57 in NSCL/P patients compared with controls. Based on the recessive model, three studies 39,46,54 reported significantly increased risk of TT genotype and one study 57 reported its significantly decreased risk in NSCL/P patients compared with controls.…”

Section: Discussionmentioning

confidence: 99%

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Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

Imani

Golchin

Safaei

et al. 2020

Sci Rep

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Both genetic and environmental factors affect the risk of orofacial clefts. The present meta-analysis aimed to evaluate the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and risk of nonsyndromic cleft lip/palate (NSCL/P) in cases-control studies. The PubMed/ Medline, Scopus, Web of Science, and Cochrane Library databases were searched up to April 2019 with no restrictions. The odds ratios (ORs) and 95% confidence intervals (CIs) in all analyses were calculated by Review Manager 5.3 software. The funnel plot analysis was carried out by the Comprehensive Meta-Analysis version 2.0 software. Subgroup analysis, meta-regression, and sensitivity analysis were performed for the pooled analyses. Thirty-one studies reviewed in this meta-analysis included 4710 NSCL/P patients and 7271 controls. There was no significant association between MTHFR C677T polymorphism and NSCL/P susceptibility related to allelic model (OR = 1.04; P = 0.49), homozygote model (OR = 1.11; P = 0.35), heterozygote model (OR = 0.99; P = 0.91), dominant model (OR = 1.00; p = 0.96), or recessive model (OR = 1.08; P = 0.23). There was no significant association between MTHFR C677T polymorphism and NSCL/P susceptibility based on the ethnicity or the source of cases. There was a significant linear relationship between the year of publication and log ORs for the allele model. The results of the present meta-analysis failed to show an association between MTHFR C677T polymorphism and NSCL/P susceptibility. The subgroup analyses based on the ethnicity and the source of cases further confirmed this result.Non-syndromic cleft lip/palate (NSCL/P) is a common birth defect worldwide 1 . In low-and middle-income countries, around 1/730 children is born with cleft lip/palate 2 . A multifactorial model of genetic inheritance has been recommended for NSCL/P based on the interaction of genetic and environmental factors 1 . Several lines of evidence have proven a significant association between polymorphism of genes connected to folate metabolism and increased risk of orofacial clefts 3 . Among genes related to folate metabolism, 5,10-methylenetetrahydrofolate reductase (MTHFR) reportedly has the highest association with NSCL/P. This gene is located on chromosome 1 at 1p36.3 and translates to MTHFR enzyme that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine 4,5 . MTHFR is a fundamental enzyme in folate metabolism and DNA synthesis, and MTHFR rs1801133 (C677T) is one of the most common polymorphisms which diminishes the enzyme activity 6-8 . Regulation of MTHFR activity is pivotal to maintain optimal cellular levels of methionine and S-adenosylmethionine 5 . Folate supplementation or its adequate dietary intake during pregnancy has been shown to prevent or decrease NSCL/P susceptibility 9 . Nutritional factors, such as the adequacy of folic acid in the mother's diet, are clearly important, but other potential disturbances in ovulation or ...

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

Imani

Golchin

Safaei

et al. 2020

Sci Rep

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“…We identified 21 matches reporting the prevalence of MTHFR C677T and A1298C in various ethnic populations, and there were some differences in allele frequencies. For example, genotype CC at bp 677 is likely to be dominant in Moroccan patients ( 42 ) whereas genotype TT in 677 is dominant in Chinese patients and Iranian patients ( 43 , 44 ). Some ethnicities even showed higher frequencies of a functionally superior genotype of MTHFR C677T and A1298C in the patient groups, which is the opposite of our hypothesis.…”

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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“…Genotype and allele frequencies were calculated by genotype count[ 14 ] followed with test sample prediction by the assumption of Hardy–Weinberg (HW) equilibrium,[ 15 ] and both the control and cases were found to be in HW equilibrium. Statistical significance was accepted at P < 0.05.…”

Section: Methodsmentioning

confidence: 99%

Single-nucleotide polymorphisms of methylenetetrahydrofolate reductase gene in a South Indian cohort with nonsyndromic cleft lip with or without palate

Abdulla

Kudkuli

Kapoor

et al. 2020

J Oral Maxillofac Pathol

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<p>MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population</p>

Cited by 10 publications

References 17 publications

Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

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

Single-nucleotide polymorphisms of methylenetetrahydrofolate reductase gene in a South Indian cohort with nonsyndromic cleft lip with or without palate

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