Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

Alam, Mohammad Afaque

doi:10.4172/2168-9296.1000172

Cited by 3 publications

(1 citation statement)

References 38 publications

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“…6 The prevalence of the A1298C allele is less well documented and although there are no global estimates, A1298C allele and MTHFR CC genotype frequencies show great variability across the globe ranging from 17% in Chinese to 36% in Canadians and Europeans and from 3% in Indians to 10% in Caucasians, respectively. 7…”

Section: Introductionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

Marques¹,

Alves²,

Leitão³

et al. 2021

European Journal of Ophthalmology

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The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

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Section: Introductionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

Marques¹,

Alves²,

Leitão³

et al. 2021

European Journal of Ophthalmology

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Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T

Ali,

Khan,

Naveed

et al. 2024

Hum Genomics

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Background Congenital heart defects (CHDs) are the heart structural malformations present at birth. Septal defects account for 40% of CHD, including atrial, ventricular and atrioventricular septal defects. In Pakistan, the prevalence of CHD is 3.4 in 1000, and a study estimated that 60,000 babies are born with CHD annually. Methylenetetrahydrofolate reductase (MTHFR), a chief enzyme, involved in the folate metabolism. The missense mutation, C677T (rs1801133), exists in MTHFR gene, results in a MTHFR thermolabile variant having low enzymatic activity. The study is aim to identify the MTHFR C677T variant association with septal defects. Methods Samples of 194 CHD patients (age $$\overline{X }\hspace{0.17em}$$ X ¯ = 5.8 ± 5.1) and 50 normal echo controls (age $$\overline{X }\hspace{0.17em}$$ X ¯ = 6.0 ± 4.9), confirmed by pediatric consultant, were collected. Extracted DNA, quantified by agarose gel electrophoresis and nanodrop, was screened for SNP by high-resolution melting (HRM). Further, HRM results were confirmed using restriction analysis and sequencing. HRM was simply and precisely genotyped the samples within 3 h at low cost. Results Genotypic data suggested that heterozygous mutant (CT) was frequent in congenital septal defect patients (0.26) which was higher than controls (0.143), p > 0.05. Mutant (TT) genotype was not found in this study. Conclusions rs1801133 has lack of significant association with congenital septal defects. The absence of TT genotype in this study suggesting the role of natural selection in targeted population. HRM is an easy, fast and next generation of PCR, which may be used for applied genomics.

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The Role of Resistin Level and Genetic Study for Patients with Hypercholesterolemia

Hidayet¹,

Baker²

2017

West Indian Med J

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Objective: The study aimed to investigate the role and level of resistin and correlation some biochemical parameters (ox-LDL, Hcy, LDL-C, TC, HDL, BMI and lipid peroxidation MDA), Antioxidant (GSH, A, C, E), also we studied familial hypercholesterolemia (FH) to investigate the effects of MTHFR gene mutation. Material and methods: 64 patients (33females and 31males) who attend Rizgary teaching hospital, Erbil, Iraq, between November 2014 to March 2015, the study included biochemistry parameter analysis and genetic study MTHFR gene (exon4) for females with (hypercholesterolemia and FH). Results: hypercholesterolemia and FH are cause of increase in (LDL-C, HDL-C, ox-LDL, Hcy, MDA(levels and the results show increase in resistin level and correlation with BMI , as well as the results show decrease in antioxidants levels. The genetic study for MTHFR gene the results show mutations in sequence of (exon4) for the gene which show (Pro (777) deletion (C) and Glu (784) deletion (A) for female patient with hypercholesterolemia) and (Lys (10844) deletion (A) and Asp (10877) deletion (G) for female with FH which leading frame shift or protein truncation). Conclusion: Hypercholesterolemia and FH are cause of increase in (resistin, LDL-C, HDL-C, ox-LDL, Hcy, MDA) levels and correlation with BMI, as well as decrease in antioxidants levels. Also MTHFR gene mutation (exon4) has an effect of patients with (hypercholesterolemia and FH).

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Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

Cited by 3 publications

References 38 publications

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T

The Role of Resistin Level and Genetic Study for Patients with Hypercholesterolemia

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