Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate reductase gene and hyperhomocysteinemia with coronary artery disease

Alam, Mohammad Afaque; Husain, Saddam; Narang, Rajiv; Chauhan, Shayam S.; Kabra, Madhulika; Vasisht, Suman

doi:10.1007/s11010-007-9671-7

Cited by 35 publications

(31 citation statements)

References 41 publications

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“…Therefore, the finding of an increased risk of CVD associated with MTHFR is not surprising because TT genotype is a strong genetic determinant for hyperhomocysteinemia. Similar observation was reported that 677TT genotype could be an inherited risk factor for heart disease [15,24,25].…”

Section: C→t Mutation and Cvd Risksupporting

confidence: 87%

“…The 'C' allele frequency in Indians varies geographically and ethnically. South Indians represents higher prevalence (36%) [39], compared to North Indians 10-23% [24].…”

Section: Allele and Genotypesmentioning

confidence: 96%

“…A diverse nature of 'T' allele incidence ranging from 59.0% in Mexicans, 44 A few studies reported from India and Indian subcontinent [24,37], have shown that mutant 'T' allele prevalence varies greatly across India, which is similar to the pattern reported in Chinese populations [36]. In our previous study, we found that the 'T' allele frequency was 17.0% [24], which is very similar to previous results (18.4%) from our centre [38]. However, there is a wide variation between north Indian (14.5-18.4%) and south Indians (9.0%) and a very low prevalence in Sri Lankans (4.9%) [39].…”

Section: T Allele and Genotypesmentioning

confidence: 99%

“…It means that TT genotype may be the risk factor of heart disease [24]. The TT genotype frequency in Caucasians, Chinese and Japanese populations is 10-16% [35,40].…”

Section: T Allele and Genotypesmentioning

confidence: 99%

“…The prevalence in Caucasians is ~ 10% [41,45], Arabians (9.1%) [29], while in Indians it ranges from 3.0% to 17.8% with varying amount of disease severity [24,39,42].…”

Section: Allele and Genotypesmentioning

confidence: 99%

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Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

Alam¹

2016

Cell Dev Biol

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A growing body of evidence suggests that mutations in MTHFR gene are involved in cardiovascular diseases (CVD) -cardiac development, atherosclerosis, myocardial infarction, heart failure, hypertension, aneurysms-and several other disease-cancers, neurological and metabolic disorders. Genetic variations in other genes are added risk for CVD-a leading cause of morbidity and mortality around the globe. Accumulating data over the decade has enhanced our understanding of MTHFR deficiency and diseases associated risk. The frequency of MTHFR 677 C→T and 1298 A→C gene mutations varies substantially in different regions of the world among different racial and ethnic groups. In particular, 677C→T and 1298 A→C variant are associated with clinical manifestation of almost all noncommunicable diseases. This review describes the roles of MTHFR gene mutation in CVD and prospective therapies for heart disease treatment.

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Section: C→t Mutation and Cvd Risksupporting

confidence: 87%

“…The 'C' allele frequency in Indians varies geographically and ethnically. South Indians represents higher prevalence (36%) [39], compared to North Indians 10-23% [24].…”

Section: Allele and Genotypesmentioning

confidence: 96%

Section: T Allele and Genotypesmentioning

confidence: 99%

“…It means that TT genotype may be the risk factor of heart disease [24]. The TT genotype frequency in Caucasians, Chinese and Japanese populations is 10-16% [35,40].…”

Section: T Allele and Genotypesmentioning

confidence: 99%

“…The prevalence in Caucasians is ~ 10% [41,45], Arabians (9.1%) [29], while in Indians it ranges from 3.0% to 17.8% with varying amount of disease severity [24,39,42].…”

Section: Allele and Genotypesmentioning

confidence: 99%

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Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

Alam¹

2016

Cell Dev Biol

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MTHFR Gene Polymorphism and Its Relationship with Plasma Homocysteine and Folate in a North Indian Population

2009

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There is a paucity of data on the prevalence of elevated homocysteine and its relation with plasma folate and the methylenetetrahydrofolate reductase (MTHFR) gene in the population of North India. This study evaluates MTHFR gene polymorphism and its relationship with plasma homocysteine and folate levels in a healthy North Indian population. The age of the 200 subjects included in this study was in the range 18-73 (mean 39.4) years. The plasma homocysteine level was elevated in 56.5%, and the plasma folate level was low in 49.5% of the subjects. Heterozygous MTHFR gene polymorphism (CT) was present in 15.5%, and homozygous (TT) in 3.5% of the subjects. Age, diet, and MTHFR gene polymorphisms were related to homocysteine level. All the subjects with the TT and 79% with the CT genotype had a high level of plasma homocysteine, whereas 51% with the CC genotype had a high homocysteine level. After adjustment for the effect of covariates, however, homocysteine was not related to MTHFR gene polymorphism.

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Oxidative Stress is Associated with Genetic Polymorphisms in One-Carbon Metabolism in Coronary Artery Disease

Lakshmi

Naushad

Rao

et al. 2011

Cell Biochem Biophys

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In view of growing body of evidence favouring the association of aberrations in one-carbon metabolism and oxidative stress in the aetiology of coronary artery disease (CAD), we investigated the risk associated with polymorphisms regulating the folate uptake and transport such as the glutamate carboxypeptidase II (GCPII) C1561T, reduced folate carrier 1 (RFC1) G80A and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T. We further evaluated the impact of seven putatively functional polymorphisms of this pathway on oxidative stress markers. Genotyping was performed on 288 CAD cases and 266 healthy controls along with the dietary folate assessment. GCPII C1561T polymorphism was found to be an independent risk factor (OR 2.71, 95% CI 1.47-4.98) for CAD, whereas cSHMT C1420T conferred protection (OR 0.51, 95% CI 0.37-0.70). Oxidative stress markers like the plasma levels of malondialdehyde, protein carbonyls and 8-oxo-deoxyguanosine were significantly increased and total glutathione was significantly decreased in CAD cases. Elevated oxidative stress was observed in subjects carrying GCPII 1561T and MTRR 66A-variant alleles and low oxidative stress was observed in the subjects carrying cSHMT 1420T and TYMS 5'-UTR 2R allele. GCPII C1561T, MTHFR C677T and MTRR A66G polymorphisms were observed to influence the homocysteine levels (P < 0.05). SHMT and TYMS variants were found to decrease oxidative stress by increasing the folate pool (r = 0.38, P = 0.003) and also by increasing the antioxidant status (r = 0.28, P = 0.03). Influence of dietary folate status was not observed. Overall, this study revealed elevated oxidative stress that was associated with the aberrations in one-carbon metabolism which could possibly influence the CAD risk.

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Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate reductase gene and hyperhomocysteinemia with coronary artery disease

Cited by 35 publications

References 41 publications

Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

MTHFR Gene Polymorphism and Its Relationship with Plasma Homocysteine and Folate in a North Indian Population

Oxidative Stress is Associated with Genetic Polymorphisms in One-Carbon Metabolism in Coronary Artery Disease

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