The A1298C Mutation in Methylenetetrahydrofolate Reductase Gene and Its Association With Idiopathic Venous Thrombosis in an Iranian Population

Soltanpour, Mohammad Soleyman; Soheili, Zahra‐Soheila; Pourfathollah, Ali Akbar; Samiei, Shahram; Meshkani, Reza; Kiani, Ali Asghar; Safa, Majid; Amirghofran, Zahra; Kavari, M

doi:10.1309/lm5lwxchvzy9rfom

Cited by 7 publications

(7 citation statements)

References 33 publications

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“…2008;Soltanpour et al, 2011), being the lowest frequency found in Brazilians (37.4%), especially mulattos ("pardo", 33.3%) (Franco et al, 1999). Our results corroborate these findings, which showed that the frequency of heterozygotes (33%) in the total sample of patients varied with skin color and, considering each group separately, were found in 27.5% of mulattos, 37.5% of whites and 38.46% of blacks.…”

Section: Discussionsupporting

confidence: 88%

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

et al. 2017

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ABSTRACT. High plasma homocysteine (Hcy) levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-b-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a possible association between these polymorphisms and the clinical variability. Blood samples of Brazilian patients with a diagnosis of thrombosis were submitted to genotyping by PCR-based methods and serum dosages of folic acid, vitamin B12 and Hcy. Except for the CBS G919A polymorphism, all other genetic markers were in HardyWeinberg equilibrium. An increased risk for venous thrombosis was found for the MTHFR 1298CC carriers (OR = 1.688; 95%CI = 0.839-3.398, P = 0.018) and those homozygously mutant for the CBS haplotype 844ins68/T833C (OR = 2.488; 95%CI = 0.501-12.363, P = 0.031), while heterozygous for this CBS haplotype showed an increased risk for higher Hcy levels (OR = 5.900; 95%CI = 1.003-34.691, P = 0.030). Significant interactions were observed among the MTHFR C677T, MTHFR A1298C and CBS haplotype 844ins68/T833C polymorphisms in the results for Hcy levels (P = 0.000), where heterozygous had higher values. Interactions among these polymorphisms can affect serum Hcy levels, where multiple heterozygosis could be a risk factor for vasoocclusive episodes.

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Section: Discussionsupporting

confidence: 88%

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

et al. 2017

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“…4 MTHFR haplotypes and homocysteine levels homozygous mutant did not showed significant association with hyperhomocysteinemia in DVT patients. Iranian population did not showed significant risk between MTHFR A1298C mutant and venous thrombosis [18]. Soltanpour et al [18] have reported 'C' allele frequency of MTHFR A1298C to be 36.5% and 38.5% respectively amongst controls and patients with venous thrombosis respectively.…”

Section: Discussionmentioning

confidence: 96%

“…Iranian population did not showed significant risk between MTHFR A1298C mutant and venous thrombosis [18]. Soltanpour et al [18] have reported 'C' allele frequency of MTHFR A1298C to be 36.5% and 38.5% respectively amongst controls and patients with venous thrombosis respectively. Hossini et al [19] have reported that genetic variants of FV Leiden, MTHFR C677T, MTHFR A1298C and PAi-1 4G/5G are significantly associated with an increased risk of DVT.…”

Section: Discussionmentioning

confidence: 96%

Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis

et al. 2019

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Hyperhomocysteinemia known to be associated with increased thrombotic tendency has been considered as a risk factor for coronary artery disease, atherosclerosis, venous thrombosis, and stroke. There are three main genes MTHFR, cystathionine beta-synthase (CBS) and methionine synthase (MS) and it's genetic variant that are known to influence the homocysteine metabolism leading to hyperhomocysteinemia. There is scarcity of Indian data on hyperhomocysteinemia and genetics variants in patients with thrombosis. Hence the objective of present study was to determine MTHFR, CBS, and MS genetic variants in thrombosis patients from Indian population. Genetic variant analysis was performed on thrombosis patients to detect MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), MS A2756G (rs1805087) and CBS T833C (rs5742905) mutations. The mutant allele frequencies of MTHFR 677T, MTHFR 1298C, MS2756G and CBS 833C were observed to be 16.1%, 37.5%, 34.1% and 5.8% respectively. MTHFR 677TT genotype was observed to be significantly associated with elevated homocysteine (Hcy) levels (64.65 lmol/L) alleles as compared to CC alleles (32.43 lmol/L) and CT alleles (30.54 lmol/L). MTHFR A1298C, MS A2756G and CBS T833C genotypes did not showed significant association with higher Hcy levels. Thus, in Indian patients with thrombosis only MTHFR T677T genotype was observed to be significantly associated with hyperhomocysteinemia.

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“…Increased oxidative stress or reduced antioxidant defense mechanisms may be involved in the onset and progression of atherosclerosis. In some studies, the relationship between reduced levels of PON1 with CAD has been mentioned, but Rahmani and Azizi (in separate studies on Iranian population) have reported no significant differences in PON1 activity in patients and controls [29][30][31] . In our study, although serum levels of PON1 in the patient group were lower than the control group, no significant difference was found in serum PON1 levels between the two groups.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of endothelial nitric oxide synthase and hypoxia-inducible factor 1 alpha genes play a role in susceptibility to coronary artery disease

et al. 2018

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Objective: Genetics is a known factor in the susceptibility to cardiovascular disease. In this study, polymorphisms of endothelial nitric oxide synthase (eNOS) (T876C and G894T) and hypoxiainducible factor 1 (HIF1) (rs10873142 and rs41508050) in coronary artery disease were compared with healthy subjects, and the relationship between these mutations and risk of coronary artery disease (CAD) was assessed. Methods: Blood samples were collected from 138 patients with obstructive CAD and 115 healthy subjects. Polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), Griess test, and enzyme-linked immunosorbent assay (ELISA) were used to measure serum nitric oxide (NO) and paraoxonase antioxidant. Independent t-test was used to examine the relationship between variables. Results: There was no significant difference between genotype frequency in healthy subjects and patients for eNOS and HIF1 alpha polymorphisms. There was no significant difference between these polymorphisms and age, sex, hypertension and lipidemia. Furthermore, the difference in mean serum levels of NO in different genotypes of the G894T gene was not significant between the patient and control groups. However, the difference in mean serum NO levels in different genotypes of the T786C gene was significant between the patient and control groups such that minimum and maximum serum NO levels were observed in individuals bearing TT and TC genotypes, respectively. The difference in mean serum NO levels was higher in patients than in controls, and was statistically significant. Conclusions: The results suggest that the T876C polymorphism could be associated with low serum NO level and implicated as a risk factor for developing CAD. Furthermore, our findings indicate that genetics may not be involved in susceptibility to CAD; however, further comprehensive studies are required.

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The A1298C Mutation in Methylenetetrahydrofolate Reductase Gene and Its Association With Idiopathic Venous Thrombosis in an Iranian Population

Cited by 7 publications

References 33 publications

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis

Polymorphisms of endothelial nitric oxide synthase and hypoxia-inducible factor 1 alpha genes play a role in susceptibility to coronary artery disease

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