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Pesquisa : D08.811.913.555.500.645 [Categoria DeCS]
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[PMID]:29369772
[Au] Autor:Manche SK; Jangala M; Dudekula D; Koralla M; Akka J
[Ad] Endereço:MAA Research Foundation, Somajiguda, Hyderabad, Telangana State, India; Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana State, India.
[Ti] Título:Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis.
[So] Source:Life Sci;196:77-83, 2018 Mar 01.
[Is] ISSN:1879-0631
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:AIM: Presbycusis or age related hearing loss is caused by several extrinsic and intrinsic factors that damage the auditory system. Gene polymorphisms in folate metabolism were found to play an important role in the etiology of presbycusis. The present study aimed to investigate the role of 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and thymidylate synthase (TYMS) gene polymorphisms in the onset of presbycusis in a South Indian population. MAIN METHODS: A total of 220 subjects confirmed with presbycusis along with 270 age and sex matched healthy controls visiting MAA ENT Hospitals, Hyderabad, India were enrolled for the study. Genotyping of MTHFR C677T (rs180133) and A1298C (rs1801131), MTR A2756G (rs1805087), TSER (rs1801136) and TS1494indel6 bp (rs16430) was carried out using PCR & PCR-RFLP methods. KEY FINDINGS: The 'TT' genotype of MTHFR C677T and '152 bp/152 bp' genotype of TS1494indel6 bp showed statistically significant risk for presbycusis while CC genotype of MTHFR A1298C, '2R/2R' genotype of TSER at 3'UTR and 6 bp ins/6 bp ins of TYMS at 5'UTR were found to be protective. The T-A-A haplotype combination of MTHFR C677T, MTHFR A1298C and MTR A2756G as well as 3R- 152 bp of TYMS at 5'UTR and 3'UTR were also found to contribute significant risk for the onset of presbycusis. Further, the combination of SNP loci TSER: TS1494indel6 bp exhibited moderate linkage in presbycusis. SIGNIFICANCE: The present pilot study identified the significant association of gene variants of MTHFR and TYMS with presbycusis. These findings aid in early diagnosis of hearing loss in the elderly population.
[Mh] Termos MeSH primário: Ácido Fólico/metabolismo
Predisposição Genética para Doença/genética
Polimorfismo Genético/genética
Presbiacusia/genética
[Mh] Termos MeSH secundário: Regiões 3' não Traduzidas/genética
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Grupo com Ancestrais do Continente Asiático
Estudos de Casos e Controles
Frequência do Gene
Genótipo
Seres Humanos
Índia/epidemiologia
Desequilíbrio de Ligação/genética
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Projetos Piloto
Polimorfismo de Nucleotídeo Único
Presbiacusia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3' Untranslated Regions); 935E97BOY8 (Folic Acid); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


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[PMID]:29310321
[Au] Autor:Wu B; Liu K; Yang JP; Hu Y; Zhang J; He JX
[Ad] Endereço:Tumor Treatment Center, Renmin Hospital of Wuhan University, Hubei.
[Ti] Título:The association between methionine synthase A2756G polymorphism and hematological cancer: A meta-analysis.
[So] Source:Medicine (Baltimore);96(48):e7469, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Numerous studies have focused on the association of methionine synthase (MS) A2756G polymorphism and acute hematological cancer risk. However, the results remain inconsistent. Therefore, a meta-analysis was performed to derive a more precise estimate of the association between them. METHODS: This meta-analysis involved 25 articles (26 studies) including 8641 hematological cancer patients and 15,498 controls. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) of the association between MS A2756G polymorphism and the risk of hematological cancer were calculated. RESULTS: Overall, no significant increased risks were found between MS A2756G polymorphism and hematological cancer risk under allelic homozygote (GA vs AA: OR = 0.98, 95% CI = 0.89-1.07, P = .62), heterozygote (GG vs AA: OR = 0.99, 95% CI = 0.85-1.15, P = .91), dominant (AG+GG vs AA: OR = 0.99, 95% CI = 0.90-1.08, P = .93), and recessive (GG vs AG+AA: OR = 1.00, 95% CI = 0.86-1.16, P = .97) models, respectively. In the stratified analyses by ethnicity and source of controls, there were still no significant associations between them in all genetic models. CONCLUSIONS: Therefore, these findings demonstrate that MS A2756G polymorphism may not be a risk factor for hematological cancer.
[Mh] Termos MeSH primário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Predisposição Genética para Doença
Neoplasias Hematológicas/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Seres Humanos
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180115
[Lr] Data última revisão:
180115
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180110
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007469


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[PMID]:29232372
[Au] Autor:Lei L; Ding L; Su J; Liu M; Shi Q; Zhou J; Sun H; Yan G
[Ad] Endereço:Center for Reproductive Medicine, Drum Tower Clinic Medical College of Nanjing Medical University, Nanjing, Jiangsu, China.
[Ti] Título:Attenuated expression of MTR in both prenatally androgenized mice and women with the hyperandrogenic phenotype of PCOS.
[So] Source:PLoS One;12(12):e0187427, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Polycystic ovary syndrome (PCOS) is a common endocrine, metabolic and heterogeneous disorder in women of reproductive age, the exact etiology of which remains unknown. To unravel the molecular mechanisms underlying the hyperandrogenic phenotype of PCOS, prenatally androgenized (PNA) mice were used to mimic this phenotype in women with PCOS. Using microarray analysis, 1188 differentially expressed genes, including 671 upregulated and 517 downregulated genes, were identified in ovaries from PNA mice. Five differentially expressed genes (Aldh1a7, Bhmt, Mtr, Nrcam, Ptprg) were validated, and decreased MTR expression was shown in ovaries of PNA mice. In addition, results from qRT-PCR showed decreased MTR expression in granulosa cells (GCs) from women with the hyperandrogenic phenotype of PCOS. Serum levels of S-adenosyl methionine (SAM), the downstream product of MTR, were also decreased in PNA mice and women with the hyperandrogenic phenotype of PCOS. Our study provides evidence that the hyperandrogenic phenotype of PCOS is linked to abnormal folate one-carbon metabolism.
[Mh] Termos MeSH primário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/metabolismo
Androgênios/administração & dosagem
Androgênios/biossíntese
Síndrome do Ovário Policístico/metabolismo
[Mh] Termos MeSH secundário: Animais
Estrogênios/sangue
Feminino
Fertilidade
Seres Humanos
Camundongos
Fenótipo
Testosterona/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Androgens); 0 (Estrogens); 3XMK78S47O (Testosterone); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); EC 2.1.1.13. (MTR protein, human)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0187427


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[PMID]:28701466
[Au] Autor:Sahu U; Rajendra VKH; Kapnoor SS; Bhagavat R; Chandra N; Rangarajan PN
[Ad] Endereço:From the Department of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
[Ti] Título:Methionine synthase is localized to the nucleus in and and to the cytoplasm in .
[So] Source:J Biol Chem;292(36):14730-14746, 2017 Sep 08.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Methionine synthase (MS) catalyzes methylation of homocysteine, the last step in the biosynthesis of methionine, which is essential for the regeneration of tetrahydrofolate and biosynthesis of -adenosylmethionine. Here, we report that MS is localized to the nucleus of and but is cytoplasmic in The strain carrying a deletion of the gene encoding MS ( ) exhibits methionine as well as adenine auxotrophy indicating that MS is required for methionine as well as adenine biosynthesis. Nuclear localization of MS (PpMS) was abrogated by the deletion of 107 C-terminal amino acids or the R742A mutation. analysis of the PpMS structure indicated that PpMS may exist in a dimer-like configuration in which Arg-742 of a monomer forms a salt bridge with Asp-113 of another monomer. Biochemical studies indicate that R742A as well as D113R mutations abrogate nuclear localization of PpMS and its ability to reverse methionine auxotrophy of Thus, association of two PpMS monomers through the interaction of Arg-742 and Asp-113 is essential for catalytic activity and nuclear localization. When PpMS is targeted to the cytoplasm employing a heterologous nuclear export signal, it is expressed at very low levels and is unable to reverse methionine and adenine auxotrophy of Thus, nuclear localization is essential for the stability and function of MS in We conclude that nuclear localization of MS is a unique feature of respiratory yeasts such as and and it may have novel moonlighting functions in the nucleus.
[Mh] Termos MeSH primário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/análise
Candida albicans/enzimologia
Núcleo Celular/enzimologia
Citoplasma/enzimologia
Pichia/enzimologia
Saccharomyces cerevisiae/enzimologia
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/metabolismo
Candida albicans/citologia
Metionina/metabolismo
Microscopia de Fluorescência
Modelos Moleculares
Pichia/citologia
Transporte Proteico
Saccharomyces cerevisiae/citologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
AE28F7PNPL (Methionine); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170714
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.783019


  5 / 952 MEDLINE  
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[PMID]:28537809
[Au] Autor:Aksoy-Sagirli P; Erdenay A; Kaytan-Saglam E; Kizir A
[Ad] Endereço:1 Department of Biochemistry, Faculty of Pharmacy, Istanbul University , Istanbul, Turkey .
[Ti] Título:Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population.
[So] Source:Genet Test Mol Biomarkers;21(7):428-432, 2017 Jul.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: Folate metabolism plays a critical role in DNA methylation and synthesis. Polymorphisms in folate metabolism may affect enzyme activities and thereby affect the cancer risk. Methionine synthase (MTR) and methionine synthase reductase (MTRR) are critical enzymes for the folate cycle. In this study, possible associations between genetic variabilities in MTR and MTRR and susceptibility to lung cancer (LC) were investigated in a Turkish population. METHODS: A case-control study with 193 LC cases and 199 noncancerous controls was conducted. DNA was extracted from leukocytes using the high pure polymerase chain reaction (PCR) template preparation kit. The MTR 2756 A>G (rs1805087), MTRR 524 C > T (rs1532268), and MTRR 66 A>G (rs1801394) genotypes were determined using PCR-restriction fragment length polymorphism (PCR-RFLP) assays. The genotype and haplotype analyses of these polymorphisms were performed using SPSS 21 and Haploview 4.2, respectively. RESULTS: An association between the MTRR A66G polymorphism and LC (p = 0.042) was found. In addition, this allele was observed more frequently in smokers compared to nonsmokers (p = 0.030). In contrast, the distribution of the MTR 2756 A>G and the MTRR 524 C > T allele frequencies were similar in the subject cases and controls. CONCLUSIONS: In conclusion, the present study suggests an association between the MTRR 66 A>G gene polymorphisms and LC risk in a Turkish population.
[Mh] Termos MeSH primário: Ferredoxina-NADP Redutase/genética
Neoplasias Pulmonares/genética
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/metabolismo
Idoso
Alelos
Estudos de Casos e Controles
Feminino
Ferredoxina-NADP Redutase/metabolismo
Ácido Fólico
Frequência do Gene
Estudos de Associação Genética/métodos
Predisposição Genética para Doença/genética
Variação Genética
Genótipo
Haplótipos/genética
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único/genética
Fatores de Risco
Turquia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
935E97BOY8 (Folic Acid); EC 1.18.1.- (methionine synthase reductase); EC 1.18.1.2 (Ferredoxin-NADP Reductase); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); EC 2.1.1.13. (MTR protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170525
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2017.0062


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[PMID]:28493936
[Au] Autor:Durda K; Kaklewski K; Gupta S; Szydlowski M; Baszuk P; Jaworska-Bieniek K; Sukiennicki G; Kaczmarek K; Waloszczyk P; Narod S; Lubinski J; Jakubowska A
[Ad] Endereço:Departmentof Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
[Ti] Título:Serum folate concentration and the incidence of lung cancer.
[So] Source:PLoS One;12(5):e0177441, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Lung cancer is a leading cause of cancer-related mortality globally. Folate helps to maintain DNA integrity and to regulate gene expression. Serum folate levels may affect the risk of several cancers, including lung cancer. In this study we evaluated the association between serum folate concentration and variations in genes involved in folate metabolism with lung cancer incidence in Poland. METHODS: The study included 366 lung cancer patients and 366 control subjects. We measured serum folate concentration and genotyped six variants in MTHFR, MTR and MTRR genes. The odds ratios of being diagnosed with lung cancer were calculated using conditional univariable and multivariable logistic regression with respect to folate level and genotypes. RESULTS: The mean serum folate level was lower in lung cancer cases than in control group (20.07 nmol/l vs. 22.52 nmol/l, p = 0.002). The odds ratio for lung cancer declined with increasing serum content of the folate. The folate concentration of >25.71 nmol/l (IVth quartile) in comparison to <15.92 nmol/l (Ist quartile) was associated with an odds ratio of 0.61 (95%CI 0.40-0.95, p = 0.03). The analysis of variations in MTHFR, MTR and MTRR genes did not reveal any significant difference between lung cancer cases and controls in univariable and multivariable analyses. CONCLUSION: In this case-control study, lower serum folate concentrations were associated with a higher risk of lung cancer diagnosis. Although previous findings have been somewhat mixed, our results add to the evidence that circulating folate levels may be an indicator of lung cancer risk.
[Mh] Termos MeSH primário: Ácido Fólico/sangue
Neoplasias Pulmonares/sangue
Neoplasias Pulmonares/genética
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos de Casos e Controles
Feminino
Ferredoxina-NADP Redutase/genética
Genótipo
Seres Humanos
Incidência
Modelos Logísticos
Neoplasias Pulmonares/epidemiologia
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Meia-Idade
Razão de Chances
Polimorfismo de Nucleotídeo Único/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
935E97BOY8 (Folic Acid); EC 1.18.1.- (methionine synthase reductase); EC 1.18.1.2 (Ferredoxin-NADP Reductase); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); EC 2.1.1.13. (MTR protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170512
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0177441


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[PMID]:28379205
[Au] Autor:Toohey JI
[Ad] Endereço:Cytoregulation Research, Elgin, ON K0G1E0, Canada. cytoreg@xplornet.com.
[Ti] Título:Possible Involvement of Hydrosulfide in B -Dependent Methyl Group Transfer.
[So] Source:Molecules;22(4), 2017 Apr 05.
[Is] ISSN:1420-3049
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Evidence from several fields of investigation lead to the hypothesis that the sulfur atom is involved in vitamin B -dependent methyl group transfer. To compile the evidence, it is necessary to briefly review the following fields: methylation, the new field of sulfane sulfur/hydrogen sulfide (S°/H2S), hydrosulfide derivatives of cobalamins, autoxidation of hydrosulfide radical, radical S-adenosylmethionine methyl transfer (RSMT), and methionine synthase (MS). Then, new reaction mechanisms for B -dependent methyl group transfer are proposed; the mechanisms are facile and overcome difficulties that existed in previously-accepted mechanisms. Finally, the theory is applied to the effect of S°/H2S in nerve tissue involving the "hypomethylation theory" that was proposed 50 years ago to explain the neuropathology resulting from deficiency of vitamin B or folic acid. The conclusions are consistent with emerging evidence that sulfane sulfur/hydrogen sulfide may be beneficial in treating Alzheimer's disease.
[Mh] Termos MeSH primário: Sulfitos/química
Vitamina B 12/química
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase
Metilação
Oxirredução
Enxofre/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Sulfites); 70FD1KFU70 (Sulfur); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); OJ9787WBLU (hydrogen sulfite); P6YC3EG204 (Vitamin B 12)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE


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[PMID]:28296761
[Au] Autor:Qiu Q; Huang J; Lin Y; Shu X; Fan H; Tu Z; Zhou Y; Xiao C
[Ad] Endereço:aInstitute of Clinical Pharmacology, Beijing Anzhen Hospital, Capital Medical University bInstitute of Clinical Medicine, China-Japan Friendship Hospital cBeijing University of Chinese Medicine dDepartment of Rheumatology, China-Japan Friendship Hospital, Beijing eDepartment of Gastroenterology, People's Hospital of Yichun, Jiangxi Yichun fDepartment of Rheumatology, Yili Kazak Autonomous Prefecture Hospital of Traditional Chinese Medicine, Xinjiang Yining, China gDepartment of Dermatology and Skin Science, University of British Columbia hMolecular Medicine Lab and Chieng Genomics Center, Vancouver Coastal Health Research Institute, Vancouver, BC, Canada.
[Ti] Título:Polymorphisms and pharmacogenomics for the toxicity of methotrexate monotherapy in patients with rheumatoid arthritis: A systematic review and meta-analysis.
[So] Source:Medicine (Baltimore);96(11):e6337, 2017 Mar.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Methotrexate (MTX) is widely used and considered a first-line disease modifying antirheumatic drug (DMARD) for the treatment of rheumatoid arthritis (RA). However, 10% to 30% of patients discontinue therapy within a year of starting the treatment, usually because of undesirable side effects. Many of the relevant genes have been investigated to estimate the association between gene polymorphisms and MTX toxicity in RA patients, although inconsistent results have been reported. METHODS: We searched EMBASE and PubMed in February 2016 for polymorphisms and pharmacogenomics study of the toxicity of MTX monotherapy in RA patients. The meta-analysis was stratified by whether genetic variants associated with MTX toxicity. RESULTS: A total of 42 publications that included 28 genes with 88 gene SNPs associated with the transporters, enzymes, and metabolites of MTX or the progression of RA were included in the SR, and 31 studies were included in 7 meta-analyses. The meta-analysis showed a significant association between the toxicity of MTX and the RFC-1 80G > A (rs1051266) polymorphism in the European RA patients. CONCLUSION: RFC-1 80G > A (rs1051266) polymorphism was associated with MTX toxicity, and larger and more stringent study designs may provide more accurate results for the effect of these SNPs on the MTX toxicity.
[Mh] Termos MeSH primário: Antirreumáticos/efeitos adversos
Artrite Reumatoide/tratamento farmacológico
Metotrexato/efeitos adversos
Proteína de Replicação C/genética
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Subfamília B de Transportador de Cassetes de Ligação de ATP/genética
Antirreumáticos/uso terapêutico
Biomarcadores
Ferredoxina-NADP Redutase/genética
Seres Humanos
Hidroximetil e Formil Transferases/genética
Metotrexato/uso terapêutico
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
Farmacogenética
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (ABCB1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family B); 0 (Antirheumatic Agents); 0 (Biomarkers); 0 (Multienzyme Complexes); 0 (RFC1 protein, human); 0 (inosine monophosphate synthase); EC 1.18.1.- (methionine synthase reductase); EC 1.18.1.2 (Ferredoxin-NADP Reductase); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); EC 2.1.1.13. (MTR protein, human); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 3.5.4.- (Nucleotide Deaminases); EC 3.6.4.- (Replication Protein C); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170316
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000006337


  9 / 952 MEDLINE  
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[PMID]:28271696
[Au] Autor:Li WX; Cheng F; Zhang AJ; Dai SX; Li GH; Lv WW; Zhou T; Zhang Q; Zhang H; Zhang T; Liu F; Liu D; Huang JF
[Ti] Título:Folate Deficiency and Gene Polymorphisms of MTHFR, MTR and MTRR Elevate the Hyperhomocysteinemia Risk.
[So] Source:Clin Lab;63(3):523-533, 2017 Mar 01.
[Is] ISSN:1433-6510
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hyperhomocysteinemia (HHcy) is an independent risk factor for cardiovascular diseases (CVDs). We aimed to investigate the joint effect of homocysteine metabolism gene polymorphisms, as well as the folate deficiency on the risk of HHcy in a Chinese hypertensive population. METHODS: This study enrolled 480 hypertensive patients aged 28 - 75 from six hospitals in different Chinese regions from 9/2005 - 12/2005. Known genotypes of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, and methionine synthase reductase (MTRR) A66G were detected by PCRRFLP methods. Serum Hcy was measured by high-performance liquid chromatography and serum folate was measured by chemiluminescent immunoassay. RESULTS: MTHFR C677T and MTR A2756G can independently elevate the risk of HHcy (TT vs. CC + CT, p < 0.001 and AG + GG vs. AA, p = 0.026, respectively), whereas MTHFR A1298C decreased HHcy risk (AC + CC vs. AA, p < 0.001) and showed a protective effect against HHcy risk. Importantly, the joint effect of these risk genotypes showed significantly higher odds of HHcy than non-risk genotypes, especially the patients with four risk genotypes. It is noteworthy that this deleterious effect was aggravated by folate deficiency. These findings were verified by generalized multifactor dimensionality reduction model (p = 0.001) and a cumulative effects model (p < 0.001). CONCLUSIONS: We have first demonstrated that the joint effect of homocysteine metabolism gene polymorphisms and folate deficiency lead to dramatic elevations in the HHcy risk.
[Mh] Termos MeSH primário: Hiper-Homocisteinemia
Polimorfismo Genético
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase
Adulto
Idoso
Ferredoxina-NADP Redutase
Ácido Fólico
Genótipo
Homocisteína
Seres Humanos
Metilenotetra-Hidrofolato Redutase (NADPH2)
Meia-Idade
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0LVT1QZ0BA (Homocysteine); 935E97BOY8 (Folic Acid); EC 1.18.1.- (methionine synthase reductase); EC 1.18.1.2 (Ferredoxin-NADP Reductase); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); EC 2.1.1.13. (MTR protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.7754/Clin.Lab.2016.160917


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[PMID]:28081209
[Au] Autor:Ren Z; Ren P; Yang B; Fang K; Ren S; Liao J; Liu S; Liu L; Peng Z; Dong Q
[Ad] Endereço:Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
[Ti] Título:MTHFR C677T, A1298C and MS A2756G Gene Polymorphisms and Male Infertility Risk in a Chinese Population: A Meta-Analysis.
[So] Source:PLoS One;12(1):e0169789, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Methylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C) and methionine synthase gene (MS A2756G) polymorphisms have shown an association with male infertility risk in several ethnic populations. Although several studies have evaluated these associations in Chinese populations, their small sample sizes and inconsistent outcomes have prevented strong conclusions. Therefore, the present meta-analysis was performed with published studies to evaluate the associations of the three single nucleotide polymorphisms (SNPs) and male infertility in a Chinese population. METHODS: We conducted a search of PubMed, Embase, Web of Science, Chinese National Knowledge Infrastructure (CNKI), China biology medical literature (CBM), VIP, and Chinese literature (Wan Fang) databases up to May 31, 2016. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were used to assess the strength of associations with a random-effect model or a fixed-effect model based on the heterogeneity analysis results. Sensitivity analysis was used to confirm the reliability and stability of the meta-analysis. RESULTS: A total of nine studies, including 1,713 cases and 1,104 controls, were included in the meta-analysis. The pooled results indicated that the MTHFR C667T polymorphism was significantly associated with increased risk of male infertility in the Chinese population in the allele model (T vs. C: OR = 1.47, 95%CI = 1.32-1.63), the dominant model (TT + CT vs. CC: OR = 1.51, 95%CI = 1.30-1.77), the additive model (TT vs. CC: OR = 2.08, 95%CI = 1.68-2.58) and the recessive model (TT vs. CT+CC: OR = 1.58, 95%CI = 1.31-1.90), whereas the MTHFR A1298C and MS A2756G polymorphisms were not risk factors. There was no significant heterogeneity in any genotype contrasts among the studies. The sensitivity analysis indicated that the results of this meta-analysis were relatively stable. CONCLUSION: This study suggests that the MTHFR C667T polymorphism may contribute to the genetic susceptibility to male infertility in the Chinese population, whereas MTHFR A1298C and MS A2756G polymorphisms may be unrelated to male infertility. Studies with larger sample sizes and representative population-based cases and well-matched controls are needed to validate our results.
[Mh] Termos MeSH primário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Infertilidade Masculina/genética
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Alelos
China
Bases de Dados Factuais
Predisposição Genética para Doença
Genótipo
Seres Humanos
Infertilidade Masculina/patologia
Masculino
Razão de Chances
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170113
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0169789



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