The 677 C/T MTHFR Polymorphism is Associated with Essential Hypertension, Coronary Artery Disease, and Higher Homocysteine Levels

İlhan, Nevin; Küçüksu, Mehmet; Kaman, Dilara; Özbay, Yılmaz

doi:10.1016/j.arcmed.2007.07.009

Cited by 90 publications

(63 citation statements)

References 39 publications

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“…In our study, the frequency of CT and TT genotypes was higher. Consistent with our results, they reported that the frequency of the C allele of the controls was significantly higher compared with patients with hypertension, and that the MTHFR C677T gene polymorphism is an independent risk factor for essential hypertension (Ilhan et al 2008).…”

Section: Discussionsupporting

confidence: 92%

Is there any genetic predisposition of MMP-9 gene C1562T and MTHFR gene C677T polymorphisms with essential hypertension?

et al. 2013

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The current study was conducted to determine whether there is a relation between hypertension and two different polymorphisms, including C1562T of the Matrix metalloproteinase-9 (MMP-9) gene and C677T of the methylenetetrahydrofolate reductase (MTHFR) gene. Genomic DNA obtained from 224 persons (125 patients with hypertension and 99 healthy controls) were used in the study. Polymorphisms were determined by using polymerase chain reaction-restriction fragment length polymorphism and electrophoresis. The results were statistically analyzed and were found to be statistically significant. The frequencies of the C1562T genotypes were found to be, in controls CC 75.8 % and CT 24.2 % and in patients CC 71.2 %, and CT 28.8 %. The frequencies of C677T genotype were found to be, in controls CC 56.6 %, CT 38.4 and TT 5.1 % in controls and in patients CC 52 %, CT 30.4 % and TT 17.6 %. In conclusion, we may suggest that there is no relation between the essential hypertension and C1562T polymorphism of MMP-9 gene; on the other hand C677T polymorphism (genotype TT) of MTHFR gene can be regarded as a genetic indicator for the development of essential hypertension.

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Section: Discussionsupporting

confidence: 92%

Is there any genetic predisposition of MMP-9 gene C1562T and MTHFR gene C677T polymorphisms with essential hypertension?

et al. 2013

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“…Our result was similar with the studies made by Yilmaz et al (12) and Ilhan et al (13), in which the reported median homocysteine concentrations in individuals carrying the heterozygote MTHFR (677 C-T) mutation were 14±7.8 and 14.8±4.7 µmol/L, respectively. In the study made by Mahfouz et al (14), it was reported that t(Hcy) concentrations in heterozygote MTHFR (677 C-T) mutation-carrying individuals were 13.0±4.6 µmol/L.…”

Section: Discussionsupporting

confidence: 93%

Homocysteine Concentrations in Heterozygote MTHFR (677C-T) and Factor V (1691 G-A) Mutation-carrying Individuals with the History of Thromboembolic Disease

Doğan¹,

Züngün²,

Yılmaz³

et al. 2016

Erciyes Med J

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Objective: Factor V (FV) (1691 G-A) and methylenetetrahydrofolate reductase (MTHFR) (677 C-T) mutations have been identified as potential risk factors for cardiovascular disease. In this study, we determined vitamin B 12 , folate, and total homocysteine t(Hcy) concentrations in heterozygote MTHFR (677 C-T) and FV (1691 G-A) mutation-carrying individuals. Materials and Methods:The study included a total of 74 individuals with MTHFR (677 C-T) or FV (1691 G-A) mutations and 70 controls. All subjects had the history of thromboembolic disease. t(Hcy), folate, and vitamin B 12 concentrations were compared between the groups.Results: A significant difference was found in vitamin B 12 and folate concentrations between patients and controls in the MTHFR (677 C-T) group (p=0.041, p=0.049, respectively). Further, t(Hcy) concentrations were found to be higher in patients than in controls in the FV (1691 G-A) mutation-carrying group (p=0.002). No significant difference was found between the groups in relation with gender in both mutations.Conclusion: t(Hcy) concentrations should be assessed to decrease the risk of future venous thromboembolism in the presence of heterozygote FV (1691 G-A) mutation.

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“…[33][34][35] Several other genes in this pathway (eg, BHMT, MTHFR, MTR, MRTT, and CBS) regulate the metabolism of homocysteine, a risk factor of CHD. [36][37][38][39][40][41] Many genes in this gene set (GCLC, GCLM, MTHFR, MTHFD1, MTR, and MTRR) are also related to methylation processes, a potential, but understudied, mechanism for CVD. 42,43 Several genes in the Rac 1 cell-motility signaling pathway have also been recently implicated in CHD.…”

Section: Discussionmentioning

confidence: 99%

Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets

Fuentes¹,

Yang

Dávila‐Román³

et al. 2012

Eur J Hum Genet

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Genome-wide association (GWA) studies of complex diseases including coronary heart disease (CHD) challenge investigators attempting to identify relevant genetic variants among hundreds of thousands of markers being tested. A selection strategy based purely on statistical significance will result in many false negative findings after adjustment for multiple testing. Thus, an integrated analysis using information from the learned genetic pathways, molecular functions, and biological processes is desirable. In this study, we applied a customized method, variable set enrichment analysis (VSEA), to the Framingham Heart Study data (404 467 variants, n ¼ 6421) to evaluate enrichment of genetic association in 1395 gene sets for their contribution to CHD. We identified 25 gene sets with nominal Po0.01; at least four sets are previously known for their roles in CHD: vascular genesis (GO:0001570), fatty-acid biosynthetic process (GO:0006633), fatty-acid metabolic process (GO:0006631), and glycerolipid metabolic process (GO:0046486). Although the four gene sets include 170 genes, only three of the genes contain a variant ranked among the top 100 in single-variant association tests of the 404 467 variants tested. Significant enrichment for novel gene sets less known for their importance to CHD were also identified: Rac 1 cell-motility signaling pathway (h_rac1 Pathway, Po0.001) and sulfur amino-acid metabolic process (GO:0000096, Po0.001). In summary, we showed that the pathway-based VSEA can help prioritize association signals in GWA studies by identifying biologically plausible targets for downstream searches of genetic variants associated with CHD.

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The 677 C/T MTHFR Polymorphism is Associated with Essential Hypertension, Coronary Artery Disease, and Higher Homocysteine Levels

Cited by 90 publications

References 39 publications

Is there any genetic predisposition of MMP-9 gene C1562T and MTHFR gene C677T polymorphisms with essential hypertension?

Is there any genetic predisposition of MMP-9 gene C1562T and MTHFR gene C677T polymorphisms with essential hypertension?

Homocysteine Concentrations in Heterozygote MTHFR (677C-T) and Factor V (1691 G-A) Mutation-carrying Individuals with the History of Thromboembolic Disease

Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets

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