Consulta: subjectFacets:"MTHFR"
Registros recuperados: 7
Data/hora: 10/06/2024 04:38:31

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon
Provedor de dados: 74
Autores: Yoshioka,France Keiko Nascimento; Araújo,Amélia Góes; Tavella,Marli Haydee; Hamoy,Igor Guerreiro; Guerreiro,João Farias.
Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9%) and TAFI T1053C (74%) and low frequencies of FVL (1.6%), FII G20210A (0.8%) and TAFI A152G (0.8%). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Factor V Leiden; Prothrombin; MTHFR; TAFI; Thrombophilia.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100007

Association study of folate-related enzymes (MTHFR, MTR, MTRR) genetic variants with non-obstructive male infertility in a Polish population
Provedor de dados: 74
Autores: Kurzawski,Mateusz; Wajda,Anna; Malinowski,Damian; Kazienko,Anna; Kurzawa,Rafal; Drozdzik,Marek.
Spermatogenesis is a process where an important contribution of genes involved in folate-mediated one-carbon metabolism is observed. The aim of the present study was to investigate the association between male infertility and the MTHFR (677C &gt; T; 1298A &gt; C), MTR (2756A &gt; G) and MTRR (66A &gt; G) polymorphisms in a Polish population. No significant differences in genotype or allele frequencies were detected between the groups of 284 infertile men and of 352 fertile controls. These results demonstrate that common polymorphisms in folate pathway genes are not major risk factors for non-obstructive male infertility in the Polish population.
Tipo: Info:eu-repo/semantics/report
Palavras-chave: MTHFR; MTR; MTRR; Polymorphism; Infertility.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100042

Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis
Provedor de dados: 74
Autores: Garcia-Hernandez,Samanta Celeste; Meneses-Sanchez,Perla; Porchia,Leonardo Martin; Torres-Rasgado,Enrique; Pérez-Fuentes,Ricardo; Gonzalez-Mejia,Martha Elba.
Abstract Our objective was to determine the association between the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) and the risk of developing acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and multiple myelomas (MM) in Latinos. PubMed, SCOPUS, EBSCO, LILACS, and other Latin-specific databases were searched for case-control studies that investigated the association between these polymorphisms and hematologic malignancies until November 2017. Genotype distributions were extracted and either fixed-effects or random-effects models were used to calculate the pooled crude odds ratios (ORs) for the heterozygous, homozygous, dominant, recessive, and allelic genetic models. No publication bias...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: MTHFR; Protective factor; Latin America; Leukemia.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400549

Genotypic analysis of c677t and a1298c polymorphisms in the methylene tetrahydrofolate reductase gene and a66g polymorphism in the methionine sintase reductase gene in down syndrome
Provedor de dados: 46
Autores: Rengifo Ramos,L; Gaviria Arias,D.
The C677T and A1298C polymorphisms in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) and the A66G polymorphism in the methionine sintase reductase gene (MTRR) were analyzed -using PCR-RFLP- in 141 individuals with Down syndrome and 200 control individuals (108 men and 92 women) in a Colombian coffee growing region. Allelic and genotypic frequencies were very similar in both populations. The 677CT, 1298AA and 66AG genotypes were most common in the Down syndrome population whereas the 677CC and 66AA genotypes were most common in the controls. In comparing allelic and genotypic frequencies in both populations using Pearson´s X2 test and Odds Ratio, no statistically significant differences were found. The MTHFR T---A haplotype was the most frequent...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Down syndrome; Genotypes; MTHFR; MTRR.
Ano: 2014
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332014000100003

Age-related Changes in DNA Methylation Status of hTERT Gene Promoter of Oral Epithelial Cells
Provedor de dados: 52
Autores: Bezerra,Stephane Flaviane de Oliveira; Costa,Ludimila de Araújo; Freitas,Priscylla Alves Nascimento de; Oliveira,Naila Francis Paulo de.
The purpose of this study was to investigate the effect of aging on the DNA methylation status of two genes involved in tumorigenesis (telomerase gene hTERT and DNA repair gene- MLH1) and one in metabolism (methylenetetrahydrofolate reductase gene- MTHFR) in oral epithelial cells. DNA methylation analysis was performed by Methylation Sensitive Restriction Enzymes (MSRE) of healthy oral epithelial cells of child (6-10 years, n=21), young (20-25 years, n=19) and elderly (over 60 years, n=25). The results for the hTERT gene showed significant variation in the methylation frequency at CpG dinucleotides among the groups (p=0.0001), with the methylated condition more frequently in children and young people. In relation to MLH1 and MTHFR, no differences were...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Epigenetic; DNA methylation; Aging; DNA repair; Telomerase; MTHFR.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132015000100082

The effect of 677C&gt;T and 1298A&gt;C MTHFR polymorphisms on sulfasalazine treatment outcome in rheumatoid arthritis
Provedor de dados: 56
Autores: Pawlik,A.; Kurzawski,M.; Gawronska-Szklarz,B.; Gornik,W.; Dziedziejko,V.; Safranow,K.; Juzyszyn,Z.; Drozdzik,M.
Despite the availability of several new agents for the treatment of rheumatoid arthritis (RA), sulfasalazine remains the mainstay because of both cost and experience with its use. Methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism and several polymorphisms have been described in the MTHFR gene. Of these, the 677C&gt;T and 1298A&gt;C polymorphisms have been associated with altered enzyme activity. To examine the association between 677C&gt;T and 1298A&gt;C MTHFR polymorphisms and sulfasalazine efficacy for the treatment of RA, a total of 117 RA patients treated with sulfasalazine (1 g daily; duration of treatment 17 ± 5 months) were analyzed. The 677C&gt;T and 1298 A&gt;C polymorphisms were detected using a PCR-RFLP method. RA was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: MTHFR; Polymorphisms; Sulfasalazine; Rheumatoid arthritis.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000700011

Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients
Provedor de dados: 56
Autores: Errera,F.I.V.; Silva,M.E.R.; Yeh,E.; Maranduba,C.M.C.; Folco,B.; Takahashi,W.; Pereira,A.C.; Krieger,J.E.; Passos-Bueno,M.R.
Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005