Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents

Nasri, Kaouther; Midani, Fatma; Kallel, Amani; Jemaa, Nadia Ben; Aloui, Mariem; Boulares, Miryam; Lassoued, Mehdi Ben; Halima, Meriam Ben; Wafi, Safa Ben; Soussi, Mariem; Mahjoubi, Imen; Baara, Abir; Fradj, Mohamed Kacem Ben; Omar, Souhail; Feki, Moncef; Jemaa, Riadh; Gaigi, Soumeya Siala; Marrakchi, Raja

doi:10.1159/000499498

Cited by 17 publications

(16 citation statements)

References 42 publications

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“…The results coincide with the previous studies by Wang et al9 in Chinese population and by Vandana Rai et al [23] in Eastern India (2019). In contrast study conducted by Nasri K et al [24] shows MTRR A66G is not associated with non-syndromic cleft lip and palate. There is geographical variation in the prevalence of MTRR A66G polymorphism.…”

Section: Discussionmentioning

confidence: 63%

Association of MTR, MTRR and MTHFR gene polymorphisms in Non-Syndromic Cleft Lip and Palate in Paediatric patients in Northern India

Arumugam

2021

ADOH

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Non syndromic cleft lip and palate includes a wide spectrum of clinical variability from a simple unilateral lip scar to bilateral cleft lip and cleft palate. Folic acid can prevent the neural tube defects such as cleft lip and palate. Polymorphisms of the folate pathway genes causes disturbed activity of the key enzymes of folate metabolism which may be a contributing factor for the development of cleft lip and palate. Main enzymes of folate pathway such as methionine synthase, methionine synthase reductase and methylene tetrahydrofolate reductase are encoded by MTR, MTRR and MTHFR genes respectively. This research evaluates the association of MTR, MTRR and MTHFR gene polymorphisms in non-syndromic cleft lip and palate in northern Indian children.

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Section: Discussionmentioning

confidence: 63%

Association of MTR, MTRR and MTHFR gene polymorphisms in Non-Syndromic Cleft Lip and Palate in Paediatric patients in Northern India

Arumugam

2021

ADOH

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“…[ 29 30 31 32 ] Nasri et al ., in their study to find a possible association between MTHFR gene polymorphism and NTD in Tunisian parents found that, TT genotype and T allele in MTHFR C677T significantly decreased the incidence of NTDs in the mother group, but significantly increased this incidence in the father group. [ 33 ] A good deal ofinteraction occurs between Folate, Vitamin B12, Homocysteine and MTHFR [ Figure 7 ]. Richter et al .…”

Section: Discussionmentioning

confidence: 99%

Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

et al. 2021

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Introduction: Various genetic and environmental factors contribute to the development of neural tube defects (NTDs) which are a group of neurulation defects resulting from failure of closure of embryonic neural tube. Among genetic factors is polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene, giving rise to a gene variant or mutant. However, in most studies directed at finding an association between MTHFR variants and NTD, there is no clear evidence of a cause-and-effect relationship. Materials and Methods: Forty diagnosed cases of NTDs and forty healthy individuals were investigated in a case–control study for presence of C677T MTHFR gene polymorphism. Serum folate and Vitamin B12 levels were estimated and MTHFR gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. Results: It was found that 32 cases were homozygous with CC genotype and eight were heterozygous with CT genotype, whereas 35 controls had CC genotype and five had CT genotype. TT genotype was absent in both the groups. There was no statistically significant difference between both the groups. No evidence of association between MTHFR C677T polymorphism and NTDs was found. Conclusion: Although there was no evidence of association between MTHFR C677T polymorphism and NTDs, our study does not rule out the impact of MTHFR gene mutation on folate metabolism. The reason for absence of TT genotype and no association could be a small sample size. Larger, comprehensive, and well-designed multicentric but feasible studies involving proper subjects and appropriate and adequate controls from several hospitals may provide more meaningful data.

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“…Increased homocysteine level was found in homozygotes in polymorphism G80G in RFC gene and polymorphism T677T in MTHFR gene ( p < 0.05 compared with the G80G/C677C and G80G/C677T—genotypes) [ 53 ]. The risk of neural tube defects seems to be increased in MTHFR gene C677T polymorphism but may also be influenced by MTHFR gene polymorphisms A1298C and methionine synthase reductase gene polymorphism A66G [ 179 ]. Homozygotes in A1298C-genotype have higher levels of global DNA methylation ( p = 0.04) [ 147 ].…”

Section: The Main Clinical Syndromes Of Folate Deficiencymentioning

confidence: 99%

The Concept of Folic Acid in Health and Disease

et al. 2021

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Folates have a pterine core structure and high metabolic activity due to their ability to accept electrons and react with O-, S-, N-, C-bounds. Folates play a role as cofactors in essential one-carbon pathways donating methyl-groups to choline phospholipids, creatine, epinephrine, DNA. Compounds similar to folates are ubiquitous and have been found in different animals, plants, and microorganisms. Folates enter the body from the diet and are also synthesized by intestinal bacteria with consequent adsorption from the colon. Three types of folate and antifolate cellular transporters have been found, differing in tissue localization, substrate affinity, type of transferring, and optimal pH for function. Laboratory criteria of folate deficiency are accepted by WHO. Severe folate deficiencies, manifesting in early life, are seen in hereditary folate malabsorption and cerebral folate deficiency. Acquired folate deficiency is quite common and is associated with poor diet and malabsorption, alcohol consumption, obesity, and kidney failure. Given the observational data that folates have a protective effect against neural tube defects, ischemic events, and cancer, food folic acid fortification was introduced in many countries. However, high physiological folate concentrations and folate overload may increase the risk of impaired brain development in embryogenesis and possess a growth advantage for precancerous altered cells.

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Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents

Cited by 17 publications

References 42 publications

Association of MTR, MTRR and MTHFR gene polymorphisms in Non-Syndromic Cleft Lip and Palate in Paediatric patients in Northern India

Association of MTR, MTRR and MTHFR gene polymorphisms in Non-Syndromic Cleft Lip and Palate in Paediatric patients in Northern India

Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

The Concept of Folic Acid in Health and Disease

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