Homocistéina e metilenotetrahidrofolato redutase em indivíduos submetidos à angiografia coronariana

Lima, Luciana Moreira; Carvalho, Maria das Graças; Fernandes, Ana P.; Sabino, Adriano de Paula; Loures-Vale, Andréia Assis; Neto, Cirilo Pereira da Fonseca; Garcia, José Carlos Faria; Saad, Jamil Abdala; Sousa, Marinez O.

doi:10.1590/s0066-782x2007000200006

Cited by 10 publications

(2 citation statements)

References 36 publications

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“…For A1298C, the enzyme activity of heterozygous and homozygous mutant individuals is respectively 83 and 61% of the wild-type subjects (van der Put et al ., 1998). Patients with polymorphism of the MTHFR gene at position 677C > T was reported to have higher homocysteine level and concurrent low plasma folic acid level (Wald et al ., 2002; Lima et al ., 2007). Pereira et al ., (2004) also reported higher plasma homocysteine level in patients with TT and CC genotype and lower vitamin B 12 levels in genotype TT compared with CC.…”

Section: Discussionmentioning

confidence: 99%

Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach

Mpoulimari

Ζιντζαράς

2022

Psychiatric Genetics

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Background Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders. Despite the extensive efforts of scientists, the etiology of ASD is far from completely elucidated. In an effort to enlighten the genetic architecture of ASDs, a meta-analysis of all available genetic association studies (GAS) was conducted. Methods We searched in the Human Genome Epidemiology Navigator (HuGE Navigator) and PubMed for available case–control GAS of ASDs. The threshold for meta-analysis was two studies per genetic variant. The association between genotype distribution and ASDs was examined using the generalized linear odds ratio (ORG). For variants with available allele frequencies, the examined model was the allele contrast. Results Overall, 57 candidate genes and 128 polymorphisms were investigated in 159 articles. In total 28 genetic polymorphisms have been shown to be associated with ASDs, that are harbored in 19 genes. Statistically significant results were revealed for the variants of the following genes adenosine deaminase (ADA), bone marrow stromal cell antigen-1 (CD157/BST1), Dopamine receptor D1 (DRD1), engrailed homolog 2 (EN2), met proto-oncogene (MET), methylenetetrahydrofolate reductase (MTHFR), solute carrier family 6 member 4 (SLC6A4), Synaptosomal-associated protein, 25kDa (SNAP-25) and vitamin D receptor (VDR). In the allele contrast model of cases versus healthy controls, significant associations were observed for Adrenoceptor Alpha 1B (ADRA1B), acetyl serotonin O - methyltransferase (ASMT), complement component 4B (C4B), dopamine receptor D3 (DRD3), met proto-oncogene (MET), neuroligin 4, X-linked (NLGN4), neurexin 1 (NRXN1), oxytocin receptor (OXTR), Serine/Threonine-Protein Kinase PFTAIRE-1 (PFTK1), Reelin (RELN) and Ras-like without CAAX 2 (RIT2). Conclusion These significant findings provide further evidence for genetic factors’ implication in ASDs offering new perspectives in means of prevention and prognosis.

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Section: Discussionmentioning

confidence: 99%

Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach

Mpoulimari

Ζιντζαράς

2022

Psychiatric Genetics

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“…Significant differences in Hcy concentrations in the group with acute atherosclerosis compared to the control group (17.0 ± 7.4 µmol/L vs. 10.6 ± 3.9 µmol/L) were observed. However, no correlation was found between the presence of the C677T variant and HHcy [ 100 ]. Deficiencies in folates have adverse effects on the one-carbon cycle, thus leading to the accumulation of Hcy and an imbalance between different form of folates, which might be a stronger risk factor than the presence of an unfavourable variant of C677T polymorphism.…”

Section: Mthfr Gene Variants With Hyperhomocysteinemia and C...mentioning

confidence: 99%

The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases

Zarembska,

Ślusarczyk,

Wrzosek

2023

IJMS

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Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the one-carbon cycle. This enzyme is essential for the metabolism of methionine, folate, and RNA, as well as for the production of proteins, DNA, and RNA. MTHFR catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to its active form, 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Numerous variants of the MTHFR gene have been recognised, among which the C677T variant is the most extensively studied. The C677T polymorphism, which results in the conversion of valine to alanine at codon 222, is associated with reduced activity and an increased thermolability of the enzyme. Impaired MTHFR efficiency is associated with increased levels of homocysteine, which can contribute to increased production of reactive oxygen species and the development of oxidative stress. Homocysteine is acknowledged as an independent risk factor for cardiovascular disease, while chronic inflammation serves as the common underlying factor among these issues. Many studies have been conducted to determine whether there is an association between the C677T polymorphism and an increased risk of cardiovascular disease, hypertension, diabetes, and overweight/obesity. There is substantial evidence supporting this association, although several studies have concluded that the polymorphism cannot be reliably used for prediction. This review examines the latest research on MTHFR polymorphisms and their correlation with cardiovascular disease, obesity, and epigenetic regulation.

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Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease

Rizwan

Qureshi

2011

Mol Cell Biochem

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Cardiovascular disorders and coronary artery disease (CAD) are significant contributors to morbidity and mortality in heart patients. As genes of the folate/homocysteine pathway have been linked with the vascular disease, we investigated association of these gene polymorphisms with CAD/myocardial infarction (MI) using the novel approach of tetraprimer ARMS-PCR. A total of 230 participants (129 MI cases, 101 normal subjects) were recruited. We genotyped rs1801133 and rs1801131 SNPs in 5'10' methylenetetrahydrofolate reductase (MTHFR), rs1805087 SNP in 5' methyltetrahydrofolate homocysteine methyltransferase (MTR), rs662 SNP in paroxanse1 (PON1), and rs5742905 polymorphism in cystathionine beta synthase (CBS). Angiotensin converting enzyme (ACE) insertion/deletion polymorphism was detected through conventional PCR. Covariates included blood pressure, fasting blood sugar, serum cholesterol, and creatinine concentrations. Our results showed allele frequencies at rs1801133, rs1801131, rs1805087 and the ACE insertion/deletion (I/D) polymorphism varied between cases and controls. Logistic regression, after adjusting for covariates, demonstrated significant associations of rs1801133 and rs1805087 with CAD in the additive, dominant, and genotype model. In contrast, ACE I/D polymorphism was significantly related with CAD where recessive model was applied. Gene-gene interaction against the disease status revealed two polymorphism groups: rs1801133, rs662, and rs1805087; and rs1801131, rs662, and ACE I/D. Only the latter interaction maintained significance after adjusted for covariates. Our study concludes that folate pathway variants exert contributory influence on susceptibility to CAD. We further suggest that tetraprimer ARMS-PCR successfully resolves the genotypes in selected samples and might prove to be a superior technique compared to the conventional approach.

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Homocistéina e metilenotetrahidrofolato redutase em indivíduos submetidos à angiografia coronariana

Cited by 10 publications

References 36 publications

Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach

Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach

The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases

Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease

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