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Literatura académica sobre el tema "MTHFR C677T"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 1 de febrero de 2022

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Artículos de revistas sobre el tema "MTHFR C677T"

Yuan, Yong-Gui, Zhi-Jun Zhang y Jing-Jing Li. "Plasma homocysteine but not MTHFR gene polymorphism is associated with geriatric depression in the Chinese population". Acta Neuropsychiatrica 20, n.º 5 (octubre de 2008): 251–55. http://dx.doi.org/10.1111/j.1601-5215.2008.00290.x.

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Background:Epidemiological studies suggested that elevated plasma homocysteine (Hcy) is associated with an increased risk of depression and cerebrovascular disease (CVD). There were few published reports of Hcy levels and methylenetetrahydrofolate reductase (MTHFR) C677T genotype in geriatric depression.Objective:To investigate the relationship among plasma Hcy level, MTHFR C677T polymorphism and geriatric depression in the Chinese population.Methods:The plasma Hcy level measured by capillary electrophoresis with ultraviolet detection and the C667T polymorphism of MTHFR detected using polymerase chain reaction-restriction fragment length polymorphism assay were determined in 116 patients with geriatric depression and in 80 healthy controls.Results:The plasma Hcy level in the patients with geriatric depression was significantly higher than that in controls (p < 0.001). The age of first episode and comorbid CVD were significantly correlated with plasma Hcy levels in geriatric patients (p = 0.014 and 0.008, respectively). The Hamilton Rating Scale for Depression total score and plasma Hcy level at baseline showed no significant correlation in the patients (r = −0.111, p = 0.397). There were no significant differences in the MTHFR C677T polymorphism genotypes and alleles between the patients and the healthy controls (p = 0.654 and 0.573, respectively).Conclusion:The elevated plasma Hcy level is a risk factor for geriatric depression. MTHFR C667T genotype is not associated with geriatric depression in the Chinese population.

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Li, Zhen, Ji Zhang, Wei Zou, Qi Xu, Siyuan Li, Jie Wu, Li Zhu et al. "The methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism is associated with breast cancer subtype susceptibility in southwestern China". PLOS ONE 16, n.º 7 (9 de julio de 2021): e0254267. http://dx.doi.org/10.1371/journal.pone.0254267.

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Methylenetetrahydrofolate reductase (MTHFR), a folate-dependent enzyme, is reportedly involved in several cancer types. The MTHFR C677T polymorphism influences many biological processes, including tumorigenesis. However, the association between the MTHFR C677T polymorphism and breast cancer (BC) subtypes is not fully understood. In this study, the MTHFR C677T polymorphism was genotyped in 490 individuals with or without BC from southwestern China. Analysis of the association between the MTHFR C677T polymorphism and BC revealed that there was a significant association between the MTHFR C677T polymorphism and triple-negative breast cancer (TNBC) (OR = 2.83, 95% CI: 1.12–9.51, P = 0.0401). Furthermore, the MTHFR C677T polymorphism can also serve as a protective factor in luminal A breast cancer (OR = 0.57, 95% CI: 0.34–0.94, P = 0.0258). Evaluation of the association between the MTHFR C677T polymorphism and clinical characteristics indicated that people who suffered from hypertension had an increased risk for BC (OR = 2.27; 95% CI: 1.08–4.6; P = 0.0264), especially TNBC (OR = 215.38; 95% CI: 2.45–84430.3; P = 0.0317). Our results suggest that the MTHFR C677T polymorphism is significantly associated with susceptibility to luminal B breast cancer and TNBC.

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Mohamed Hefila, Nermeen. "Methylen tetrahydrofolate reductase enzyme gene C677T and A1298C mutations in primigravida with first trimester missed abortion: cross-sectional study". International Journal of Reproduction, Contraception, Obstetrics and Gynecology 10, n.º 3 (24 de febrero de 2021): 836. http://dx.doi.org/10.18203/2320-1770.ijrcog20210492.

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Background: This work aimed to correlate between MTHFR C677T and A1298C genes (methylenetetrahydrofolate reductase) mutation and first trimester missed abortion in primigravida to identify pregnant ladies who need anticoagulation therapy to improve pregnancy outcome. The conducted study was a cross-sectional study. Data were collected from females recruited from EL Shatby hospital, Alexandria, Egypt. The present study was done on 40 primigravida females recruited from EL Shatby hospital. Methods: All participating women were primigravida in their first trimester with missed abortion. Blood specimens were collected from all cases involved in the study for DNA extraction and genotype analysis based on PCR and reverse hybridization. The mutations studied are the MTHFR C667T and A1298C genes. Main outcome measures: The MTHFR C667T mutations in our study is not significantly related to abortion in primigravida while MTHFR A1298C mutations prevalence were appeared significantly have a relation to abortion.Results: In the current study, the prevalence of MTHFR A1298C mutations was in 52.5% of cases, with homozygosity in 15 % of cases and heterozygosity in 37.5% of cases. However, the total prevalence of the MTHFR C667T gene mutations was 30% of cases only and all are heterozygous. Four cases were prevalent with combined thrombophilia (MTHFR C677T and A1298C) in the participating cases. Finally, the number of individuals were assessed for each of the gene mutations based on of homozygous or heterozygous. No homozygous cases were detected for MTHFR C667T gene mutation.Conclusions: In this current study, there is an association between miscarriage and thrombophilia.

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Wang, Shengli, Shuguang Zuo, Zhigang Liu, Xinying Ji, Zhenqiang Yao y Xinchun Wang. "Association of MTHFR and RFC1 gene polymorphisms with methotrexate efficacy and toxicity in Chinese Han patients with rheumatoid arthritis". Journal of International Medical Research 48, n.º 2 (16 de octubre de 2019): 030006051987958. http://dx.doi.org/10.1177/0300060519879588.

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Objective The objective was to explore the association of methylene tetrahydrofolate reductase ( MTHFR) C667T and A1298C and reduced folate carrier 1 ( RFC-1) A80G single nucleotide polymorphisms (SNP) with rheumatoid arthritis (RA) and efficacy and toxicity of methotrexate (MTX) treatment in Chinese Han patients in Henan, China. Methods Two hundred ninety-six patients with RA were enrolled (cases) and 120 healthy individuals served as controls. The genotypes of MTHFR C667T and A1298C SNP and RFC-1 A80G SNP were detected by restriction fragment length polymorphism-PCR and compared between cases and controls. We analyzed correlations of clinical effect, toxicity, and SNPs after 6 months of MTX treatment. Results We detected no significant differences in MTHFR C677T and A1298C and RFC-1 A80G SNPs between cases and controls. The RFC-1 A80G SNP differed between RA patients with good and poor efficacy after 6 months of MTX, and was an independent factor of MTX efficacy. The MTHFR C677T SNP was differently distributed in the adverse drug reaction (ADR) and non-ADR groups and was an independent factor of MTX toxicity. Conclusions In Chinese Han patients with RA, the MTHFR C667T SNP may correlate with MTX toxicity, whereas the RFC-1 A80G SNP may correlate with MTX efficacy rather than toxicity.

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Kozma, Kinga, Claudia Jurca y Marius Bembea. "Polymorphism of MTHFR gene (677 and 1298) in females with spontaneous abortions in Bihor County". Romanian Medical Journal 62, n.º 2 (30 de junio de 2015): 195–99. http://dx.doi.org/10.37897/rmj.2015.2.19.

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Introduction. The MTHFR gene polymorphism is cited as a possible cause of spontaneous abortion. Aim. The genotype profile determination for the MTHFR (677 and 1298) gene and its correlations with spontaneous abortion in a female study group from Bihor County, Romania. Material and methods. This is a comparative research type conducted on a study group (SG) consisting of 46 female patients with a history of spontaneous abortions and a control group (CG) consisting of 50 females with no spontaneous abortions, no familial or personal history of thromboembolic events and who have had at least two previous live births. All women in both groups were genotyped for the MTHFR gene in positions 677 and 1298 by the Real-Time PCR method. Results. The proportion and the statistic significance of MTHFR 677/1298 genotype combinations found by us in the SG compared with the CG was, as follow: C677C/A1298A 2,17%, vs. 22% (p=0,01), C677T/A1298A 23,91%, vs. 20% (p=0,81), C677C/A1298C 21,73%, vs. 16% (p=0,61), C677C/C1298C 17,39%, vs. 4% (p=0,09), T677T/A1298A 13,04%, vs. 8% (p=0,51), C677T/A1298C 19,56%, vs. 28% (p=0,49), C677T/C1298C 2,17%, vs. 2% (p=1) and T677T/A1298C 0%, vs. 0% (p=1). Conclusion. The C677C/A1298A genotype combination (wild type/wild type) is in a significant higher percentage (p<0.05) in the control group compared to the study group, suggesting its protective role in producing spontaneous abortion. No other polymorphism of this gene has been statistically associated with spontaneous abortion.

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Zhang, Yong-lian y Xiong-wei Xie. "Methylenetetrahydrofolate reductase C677T polymorphism and toxicity to 5-FU-based chemotherapy in colorectal cancer". Tropical Journal of Pharmaceutical Research 19, n.º 1 (9 de abril de 2020): 209–13. http://dx.doi.org/10.4314/tjpr.v19i1.30.

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Purpose: To investigate the toxicity of methylenetetrahydrofolate reductase (MTHFR) polymorphism in colorectal cancer patients treated with 5-fluorouracil (5-FU).Methods: A total of 105 patients with colorectal cancer who underwent 5-FU therapy were included in this study. MTHFR C677T polymorphisms were determined using direct sequencing. Physical examination and the results of blood and urine tests were used to evaluate the toxicities, including gastrointestinal toxicity, hematopoietic toxicity, hair-skin toxicity and hand-foot syndrome.Results: In 90.5 % of all patients, 5-FU toxicity was observed. With regard to MTHFR C677T mutation, 45.7 % heterozygote mutants and 19.0 % homozygote mutants were observed. MTHFR C677T polymorphism was statistically related to 5-FU toxicity (p = 0.000). In addition, MTHFR C677T mutation was closely related to hematopoietic toxicity (p = 0.005).Conclusion: MTHFR C677T can be used for the prediction of 5-FU toxicity, and can also predict hematopoietic toxicity in patients with colorectal cancer. Keywords: MTHFR genes, Polymorphism, Colorectal cancer, Biomarker, Toxicity

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Bagher, Amina M., Alexander P. Young, Thikryat Neamatallah, Reham M. Al-Amoudi, Sara M. Bagher y Eileen M. Denovan-Wright. "Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment". Annals of Saudi Medicine 41, n.º 1 (enero de 2021): 1–7. http://dx.doi.org/10.5144/0256-4947.2021.1.

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BACKGROUND: Methylenetetrahydrofolate reductase, the encoded by the MTHFR gene, plays a crucial role in converting the amino acid homocysteine to methionine. Two polymorphisms of the MTHFR gene, C677T and A1298C, reportedly reduce enzyme activity, resulting in hyperhomocysteinemia. Patients with C677T and A1298C polymorphisms may be at higher risk for developing abnormal hyperhomocysteinemia, which has been linked to catastrophic neurological including fatal outcomes. OBJECTIVE: Determine the prevalence of the MTHFR gene variants C677T and A1298C among pediatric dental patients treated at King Abdulaziz University Hospital. DESIGN: Cross-sectional. SETTING: Clinics of pediatric dentistry department. SUBJECTS AND METHODS: Healthy Saudi children 6–12 years old with no known allergies were screened for eligibility between May and December 2019. A single investigator collected saliva samples. The MTHFR C677T and A1298C polymorphisms were analyzed using polymerase chain reaction and restriction fragment length polymorphism. MAIN OUTCOME MEASURE: The prevalence of MTHFR gene variants (C677T and A1298C) among the subjects. SAMPLE SIZE: 138. RESULTS: MTHFR C677T polymorphism was present in 36.2% of the sample and 90.0% of children carrying this allele were heterozygotes. MTHFR A1298C polymorphism was present in 91.3% of the sample and 77.0% of the children carrying this allele were heterozygotes. No linkage disequilibrium between MTHFR C677T and MTHFR A1298C was observed within this sample. CONCLUSIONS: Our study found a high frequency of the MTHFR A1298C genotype, which was substantially more abundant than expected based on a Hardy-Weinberg distribution. Therefore, caution is advised in using N 2 O in Saudi children as the increased prevalence of this MTHFR allele may increase the incidence of serious adverse effects among these children. LIMITATIONS: Further studies are recommended with a larger sample size from randomly selected hospitals from different regions of Saudi Arabia. CONFLICT OF INTEREST: None.

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El-Hadidy, Mohamed A., Hanaa M. Abdeen, Sherin M. Abd El-Aziz y Mohammad Al-Harrass. "MTHFR Gene Polymorphism and Age of Onset of Schizophrenia and Bipolar Disorder". BioMed Research International 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/318483.

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Objective. Several studies with contradictory results from different cultures about association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in schizophrenia and bipolar disorders. Little is known about this association in Arab culture and Egypt. So the present study aimed to assess the association of MTHFR C677T polymorphism in bipolar disorder (BD) and schizophrenia in comparison to control group. The association between MTHFR C677T polymorphism and the age at onset in schizophrenia or BD was also studied.Methods. Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were used to examine the genotype and allele frequencies of MTHFR C677T polymorphism in 149 healthy subjects and 134 bipolar and 103 schizophrenia patients.Results. In BD and schizophrenia, there was a higher prevalence of MTHFR C677T polymorphism than healthy subjects. Earlier age at onset was found in patients with BD, carrying one copy of the T allele or CT genotypes but not in patients with schizophrenia.Conclusion. The present findings suggest that the MTHFR C677T polymorphisms are likely to be associated with the risk of developing BD and schizophrenia and influence the age at onset of BD but not the age at onset of schizophrenia.

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Trinh, Thi Que, Thi Kim Phuong Doan, Thanh Van Ta, Thi Thu Hien Duong, Thi Ngoc Lan Hoang y Ba Nha Pham. "Phân tích đột biến C677T và A1298C của gen MTHFR ở phụ nữ có tiền sử sẩy thai, thai chết lưu". Tạp chí Phụ sản 16, n.º 3 (1 de septiembre de 2019): 42–45. http://dx.doi.org/10.46755/vjog.2019.3.1070.

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Mục tiêu: Đánh giá mối liên quan giữa kiểu gen MTHFR C677T và A1298C với tình trạng sảy thai, thai chết lưu. Đối tượng và phương pháp: Nghiên cứu bệnh chứng 118 người trong đó 35 người nhóm chứng và 83 người nhóm có sảy thai, thai chết lưu ít nhất 2 lần. Xác định kiểu gen MTHFR C677T và A1298C của nhóm nghiên cứu bằng kỹ thuật Realtime PCR. Kết quả: Tỷ lệ đột biển của MTHFR C677T lần lượt là 43,4% và 31,4% trong nhóm bệnh và nhóm chứng. Tỷ lệ đột biến của MTHFR A1298C trong nhóm bệnh và nhóm chứng lần lượt là 53% và 34,3%. Tổ hợp của 2 đột biến MTHFR C677T và A1298C ỏ nhóm bệnh cao hơn đáng kể so với nhóm chứng với p

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Wiwanitkit, Viroj. "Roles of Methylenetetrahydrofolate Reductase C677T Polymorphism in Repeated Pregnancy Loss". Clinical and Applied Thrombosis/Hemostasis 11, n.º 3 (julio de 2005): 343–45. http://dx.doi.org/10.1177/107602960501100315.

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Congenital thrombophilia in repeated pregnancy lost (RPL) has been noted for years. Methylenetetrahydrofolate reductase (MTHFR) gene is an interesting gene, mentioned for its possible roles in RPL. There is considerable controversy regarding the clinical role of MTHFR C677T polymorphism as a risk factor of RPL. Here, a summative analysis is performed on the recent previous reports on the MTHFR C677T and its correlation to RPL. The metanalysis was performed to assess the correlation between the pattern of MTHFR C677T polymorphism and RPL. From available eight case-control studies, 752 patients and 625 controls are evaluated. The overall frequencies of 4G allele for the patients and controls are 31.5 and 33.5, respectively. According to this study, 53.1% of subjects with T allele have RLP while 55.3% of subjects without T allele have RLP. From overall risk estimation, the subjects with T alleles have 0.96 times lower risk to RLP. According to this analysis, the pattern of MTHFR C677T polymorphism might not represent a useful marker of increased risk for RPL. In addition, there was no association between pattern of MTHFR C677T polymorphism and ethnicity of the patients in this study.

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Tesis sobre el tema "MTHFR C677T"

Massa, Nayara Moreira. "Avaliação do efeito da Citrullus Lanatus (melancia) e análise Da influência de polimorfismos genéticos em adultos Dislipidêmicos". Universidade Federal da Paraíba, 2013. http://tede.biblioteca.ufpb.br:8080/handle/tede/4296.

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Dyslipidemia and genetic polymorphisms are associated with increased risk for developing cardiovascular diseases and watermelon appears to possess the potential to improve hyperlipidemia due to the presence of nutrients such as arginine and citrulline. We investigated the hypolipidemic effect of the extract of watermelon and influence of genotype of methylenetetrahydrofolate reductase (MTHFR C677T) and apolipoprotein E in response to supplementation. We developed an experimental, clinical phase II, randomized, double blind placebo controlled. Initially biochemical tests were performed to evaluate the lipid profile with 92 employees of a public institution, randomly. Of these, forty-three subjects diagnosed with dyslipidemia were randomly divided into two groups, the experimental (n = 22) and control (n = 21). The subjects were supplemented daily (6 g) for 42 days with extract of watermelon or a mixture of carbohydrates (sucrose / glucose / fructose). We evaluated anthropometric parameters (weight, body mass index, waist circumference and waist-hip ratio), biochemical (lipid profile), systemic arterial pressure and cardiac autonomic activity. The use of the extract of watermelon reduced plasma total cholesterol (p <0.05) and low density lipoprotein (p <0.01) without modifying values triglyceride, high density lipoprotein and very low density lipoprotein in human adults with dyslipidemia, pre hypertensive, overweight and glucose levels close to the upper limit. T allele carriers (C677T) in the experimental group apresentarm reduction of low density lipoprotein (p <0.01), longer allele C did not reduce the levels of this variable. The subjects in the experimental group and control had stimulated the sympathetic system, without modifications after supplementation in both groups. Beneficial effect of the extract on blood pressure levels, significantly reducing systolic blood pressure (p <0.01) and diastolic (p <0.01) in the experimental group, no significant changes in the control group. There were no changes in anthropometric parameters in both groups after supplementation with the extract of watermelon. In summary, the present study first demonstrated the beneficial effect of the consumption of watermelon extract in reducing plasma levels of lipids and systolic and diastolic blood pressure in humans, where MTHFR C677T polymorphism did not influence the levels of plasma lipids, but makes individuals more responsive to treatment with watermelon. The consumption of functional food may be an alternative therapy in the adjuvant treatment of patients with dyslipidemia, causing health promotion and minimizing the development of risk factors for cardiovascular disease.
A dislipidemia e polimorfismos genéticos estão relacionados com risco aumentado para desenvolver doenças cardiovasculares e a melancia parece possuir potencial para melhorar hiperlipidemia devido à presença de nutrientes como arginina e citrulina. Investigou-se o efeito hipolipemiante do extrato de melancia e a influência do genótipo da metilenotetrahidrofolato redutase (MTHFR C677T) e da apolipoproteína E na resposta a suplementação. Foi desenvolvido um estudo experimental, clínico de fase II, randomizado, duplo cego com placebo controlado. Inicialmente foram realizados exames bioquímicos para avaliação do perfil lipídico com 92 funcionários de uma instituição pública, de forma aleatória. Destes, quarenta e três sujeitos diagnósticados com dislipidemia foram randomicamente divididos em dois grupos, o experimental (n=22) e controle (n=21). Os sujeitos foram suplementados diariamente (6 g) durante 42 dias com extrato de melancia ou uma mistura de hidratos de carbono (sacarose/glicose/frutose). Foram avaliados parâmetros antropométricos (peso, índice de massa corporal, circunferência da cintura e relação cintura quadril), bioquímicos (perfil lipídico), pressão arterial sistêmica e atividade autonômica cardíaca. O consumo do extrato de melancia reduziu concentrações plasmáticas de colesterol total (p<0,05) e lipoproteína de baixa densidade (p<0,01), sem modificar valores de triglicerídeo, lipoproteína de alta densidade e lipoproteína de muito baixa densidade em humanos adultos com dislipidemia, pré hipertensos, com sobrepeso e glicemia próximo ao limite superior. Portadores do alelo T (MTHFR C677T) do grupo experimental apresentarm redução da lipoproteína de baixa densidade (p<0,01), já portadores do alelo C não reduziram os níveis desta variável. Os sujeitos do grupo experimental e controle apresentaram o sistema simpático estimulado, sem modificações após suplementação em ambos os grupos. Efeito benéfico do extrato sobre níveis de pressão arterial, reduzindo significativamente valores de pressão arterial sistólica (p<0,01) e diastólica (p<0,01) no grupo experimental, sem alterações significativas no grupo controle. Não foram encontradas modificações dos parâmetros antropométricos em ambos os grupos após a suplementação com o extrato de melancia. Em resumo, o presente estudo demonstrou pela primeira vez efeito benéfico do consumo do extrato de melancia na redução dos níveis plasmáticos de lipídios e pressão arterial sistólica e diastólica em seres humanos, onde polimorfismo MTHFR C677T não influenciou os níveis de lipídios plasmáticos, mas torna os indivíduos mais responsivos ao tratamento com a melancia. O consumo deste alimento funcional pode representar uma alternativa terapêutica no tratamento coadjuvante de pacientes com dislipidemia, acarretando promoção da saúde e minimização do desenvolvimento de fatores de risco para as doenças cardiovasculares.

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Hessing, Sabine. "Die Rolle der MTHFR-C677T-Mutation bei der akuten Abstossung von Nierentransplantaten". [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=967954932.

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SILVA, A. B. "Associação do carcinoma epidermóide oral com os polimorfismos MTHFR C677T, MTHFR A1298C e CBS 844ins68 na população do Espírito Santo". Universidade Federal do Espírito Santo, 2013. http://repositorio.ufes.br/handle/10/4473.

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Associação do carcinoma epidermóide oral com os polimorfismos MTHFR C677T, MTHFR A1298C e CBS 844ins68 na população do Espírito Santo

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Wilson, Carol Patricia. "The MTHFR C677T polymorphism and riboflavin : a novel gene-nutrient interaction affecting blood pressure". Thesis, University of Ulster, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.554915.

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Hypertension IS a major risk factor for CVD and unequivocal evidence has demonstrated a continuous and linear relationship between elevated blood pressure (BP) and stroke. Among the many established risk factors for hypertension, a novel gene- nutrient interaction with a potential role in BP has recently emerged. A common polymorphism (677C---)oT) in the gene encoding the folate-metabolising enzyme methylenetetrahydrofolate reductase (MTHFR) produces a variant enzyme with decreased activity, and recent work at this centre in premature CVD patients reported that stabilisation of the variant enzyme by administration of its cofactor riboflavin may lower BP. The aim of this thesis was to further investigate the association between the MTHFR 677C---)o T polymorphism and BP and to evaluate the potential modulating role of riboflavin. The findings of this thesis demonstrated that riboflavin supplementation at the dietary level (1.6mg/dI16weeks) produced a genotype-specific lowering of BP that was clinically significant and that this effect was not confined solely to high-risk CVD patients but may in fact be applicable to hypertensive patients generally with the TT genotype. Preliminary work using 24-hour ambulatory blood pressure monitoring (ABPM) reported a non-significant trend towards higher BP in those with the TT genotype compared to those with the CC and CT genotypes. It also appeared to suggest that MTHFR genotype may have an effect on nocturnal BP characterised by non- dipping status, itself a cardiovascular risk factor independently of 24-hour blood pressure. In conclusion this thesis has confirmed that the MTHFR 677 TT genotype is a risk factor for hypertension and that optimisation of riboflavin status offers a targeted nutritional therapy with clinically relevant effects on BP specifically in this genotype group. Given the frequency of this polymorphism worldwide and the global burden of blood pressure-related disease, these findings could have important public health implications.

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HAMAJIMA, NOBUYUKI, ATSUYOSHI MORI, HIROTAKA MATSUO, KENJI WAKAI, EMI MORITA, SAYO KAWAI, TAKASHI TAMURA et al. "No Association between MTHFR C677T and Serum Uric Acid Levels among Japanese with ABCG2 126QQ and SLC22A12 258WW". Nagoya University School of Medicine, 2013. http://hdl.handle.net/2237/17605.

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Lattimore, Lois Eileen. "Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Polymorphisms in Cancer Patients with Venous Thromboembolism". Diss., The University of Arizona, 2010. http://hdl.handle.net/10150/193768.

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Intro/Aims: Venous thromboembolism (VTE) is a common complication in cancer patients. The role of thrombophilic polymorphisms in cancer related VTE remains poorly explored. Aim 1 of this study was to determine if Factor V Leiden (G1691A), Prothrombin (PT) G20210A or methylenetetrahydrofolate reductase (MTHFR) C677T are associated with the increased occurrence of VTE in adult oncology subjects compared to nononcology subjects. Aim 2 of this study was to determine if cancer patients with the MTHFR C677T polymorphism who are treated with antimetabolite therapy have an increased incidence of VTE compared to cancer patients who are treated with other chemotherapy.Setting/Methods: A descriptive, comparative, retrospective chart analysis was utilized for this study in an outpatient hematology, oncology clinic in Southern Arizona. Enrolled were 100 adult subjects (age 18 - 85) with documented history of VTE (27 subjects with cancer and 73 noncancer). Subjects were evaluated for Factor V Leiden, PT G20210A, and MTHFR C677T prior to the study. Eleven subjects were treated with antimetabolite chemotherapy and 8 subjects were treated with other chemotherapy.Results: The overall polymorphism frequency for Factor V Leiden was 21%, PT G20210A 4%, and MTHFR C677T 50%. Factor V Leiden was found in 11.1% of cancer subjects and 24.7% of noncancer subjects. Prothrombin G20210A was found in 3.7% of cancer subjects and 4.1% of noncancer subjects. MTHFR C677T was present in 25.9% of cancer subjects and 58.9% of noncancer subjects. No statistical significance was observed between subjects treated with an antimetabolite and positive for MTHFR C677T compared with those treated with other types of chemotherapy.Conclusion: Analysis of the data collected in this study demonstrated overall higher rates than the expected frequencies of all polymorphism for both the cancer and noncancer patients with documented VTE. In this small retrospective study, the only significant finding was that the MTHFR C677T polymorphism was more prevalent in the noncancer group.Currently, there are no specific guidelines for VTE prevention in the outpatient oncology setting. Identification of risk factors, including prothrombotic mutations may reduce risk of VTE and provide guidance for prophylactic treatment recommendations in the outpatient setting.

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Obukofe, Benjamin Amrakpovughe. "Angiotensin Converting Enzyme Insertion/Deletion (ACE I/D) and Methylene Tetrahydrofolate Reductase C677T (MTHFR C677T) genetic polymorphisms in the pathogenesis of abdominal aortic aneurysms (AAA)". Thesis, University of Leicester, 2013. http://hdl.handle.net/2381/28194.

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Objectives: The aims of the study were to identify associations between ACE I/D and MTHFR C677T and AAA. Methods: A retrospective case-control study in which polymerase chain reaction (PCR) methodology was employed to identify associations between ACE I/D and MTHFR C677T polymorphisms and AAA. DNA was extracted from reasonably matched cases and controls after suitable screening for group assignment. There were a total of 1352 subjects genotyped for the MTHFR C677T polymorphism comprising 674 controls and 678 cases. Comparative figures for ACE I/D polymorphism genotyping were 812 and 1107, respectively. All statistical analyses were conducted using R programming software with user-written codes. Results: The ACE II, ID and DD genotype distributions in controls (177, 410 and 225) and cases (218, 529 and 270) were in Hardy-Weinberg Equilibrium (HWE), P=0.21.There was no difference in allele (“I” and “D”) distributions between cases and controls (odds ratio(OR),1.001; 95% CI, 0.88-1.14; P =0.98). There was no difference between cases and controls in terms of the II, ID and DD distributions irrespective of the genetic model adopted. Similarly, the MTHFR CC, CT and TT genotype distributions for controls (358, 257 and 59) and cases (321, 292, and 65) were in HWE (P = 0.39) but the allele (“C” and “T”) distributions were not significantly different between groups (OR, 1.172; 95%CI, 0.99 -1.38; P=0.057). However, MTHFR C677T polymorphism was significantly associated with AAA under a heterozygote co-dominant (OR, 1.27; 95% CI, 1.01-1.59) and dominant (CT+TT vs. CC) (OR, 1.26; 95% CI, 1.02-1.56; P= 0.034) genetic inheritance models, respectively. However, there was no association under the over-dominant (CT vs. CC +TT) model (OR, 1.23; 95% CI, 0.99-1.53; P=0.06). Similarly, the trend test was not significant (OR, 1.14; P=0.06) and when corrected for confounders. Conclusion: The ACE I/D and MTHFR C677T genetic polymorphisms were not independently associated with AAA in this study.

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Santos, Kelly. "Frequencia das mutações C677T e A1298C no gene da MTHFR em portadoras de sindrome de Turner". [s.n.], 2002. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308590.

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Orientador : Carmen Silvia Bertuzzo
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
Made available in DSpace on 2018-08-02T04:23:22Z (GMT). No. of bitstreams: 1 Santos_Kelly_M.pdf: 15332993 bytes, checksum: 39bff3e0afd6a69cc924f944b9927971 (MD5) Previous issue date: 2002
Resumo: A Síndrome de Turner (ST), descrita por Henry Turner em 1938, caracteriza-se classicamente por um fenótipo feminino associado à baixa estatura, infantilismo sexual, esterilidade, além de diversas malfonnações. Há evidências de que mutações na enzima metilenotetrahidrofolato redutase (MTHFR), ligada ao metabolismo do ácido fólico, levariam a aberrações cromossômicas devido a fenômenos de hipometilação. No presente estudo nós avaliamos a freqüência das mutações C677T e A1298C no gene da MTHFR em 49 portadoras de ST e em 200 indivíduos controles. O método de análise foi a Reação em Cadeia da Polimerase (PCR) seguida de digestão enzimática específica. Encontramos 26% de pacientes heterozigotas para a mutação C677T, 18% de homozigotas mutantes para a mutação C677T, 22% de pacientes heterozigotas A1298C, 10% de homozigotas mutante 1298C e 14% de heterozigotas para ambas as mutações C677T/A1298C. Nossos resultados indicam uma incidência elevada de indivíduos mutantes C677T (p<0,001) em nossa amostra. Sugerindo que a deficiência da MTHFR pode ser identificada como um fator de risco para nascimentos de crianças com ST
Abstract: Henry Tumer described Turner's syndrome (TS) in 1938 and characterized it as a classicaI female phenotype associated with a short stature, sexual irmnaturity,sterility and other maIformations. Evidences exist that methylenetetrahydrofolate reductase (MTHFR) enzyme mutations related to folic acid metabolism lead to chromosomal aberrations due to the hypomethylation phenomenon. This study evaIuates the frequency of C677T and A1298C mutations of the MTHFR gene among 49 individuais with TS and 200 control individuais. An analysisof the results was obtained using the polymerase chain reaction (PCR), which was followed by specific enzymatic digestion. In this study, 26% of patients were heterozygous for the C677T mutation, 18% were homozygous for the C677T mutation, 22% ofthe patients were heterozygous for the A1298C mutation and 14% were heterozygous for both C677T/A1298C mutations. Our results demonstrated a higher incidence of C677T mutant individuais (p<0.001) in this sample. Suggesting that MTHFR deficiency can be defined as a risk factor for the birth of TS children
Mestrado
Ciencias Biomedicas
Mestre em Ciências Médicas

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Fernandes, Simone Pereira. "Relação do hábito alimentar e polimorfismos da MTHFR C677T com a instabilidade genômica em fumicultores gaúchos". reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2012. http://hdl.handle.net/10183/60560.

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O dano genético pode ocorrer espontaneamente sob circunstâncias metabólicas normais e pode ser potencializado em situações de deficiência dietética e exposição excessiva a mutagênicos e carcinogênicos ambientais. As deficiências de ácido fólico, vitamina B6 e vitamina B12 podem levar a um aumento nos níveis e alterações na metilação do DNA. MTHFR é a enzima chave na via de metabolização do folato e o polimorfismo MTHFR C677T conduz à redução na atividade da enzima. O objetivo deste estudo foi avaliar influências da ingestão dos micronutrientes B12, B6 e folato (B9), do polimorfismo MTHFR C677T na instabilidade genômica de indivíduos expostos ocupacionalmente a pesticidas. O estudo envolveu 69 homens e 41 mulheres (n= 110) com uma idade média 42,3 ± 13,32 anos no qual 42 (38,2%) deles apresentaram peso normal, 51 (46,4%) sobrepeso e 15 (13,6%) obesidade grau I, todos os indivíduos da amostra são fumicultores de Venâncio Aires e Santa Cruz do Sul (estado do Rio Grande do Sul, Brasil). A genotipagem do polimorfismo MTHFR C677T foi realizada pelo método PCR-RFLP. Os dados de dano de DNA foram avaliados pelos biomarcadores de exposição ocupacional ensaio cometa e micronúcleo. O status nutricional foi avaliado com base na média de 3 recordatórios de 24 horas (coletados em 3 dias não consecutivos , incluindo um final de semana em um intervalo de 4 meses). A ingestão dos micronutrientes foi estimada usando o programa nutricional Food Processor SQL 10.9. Não foram encontradas diferenças significativas entre idade e tempo de exposição a pesticidas para os parâmetros analisados. Encontramos aumento na frequência de micronúcleo de linfócitos em indivíduos com ingestão inadequada de folato e vitamina B12, apresentando diferença significativa (P = 0,030) e (P = 0,014) respectivamente quando comparados com os indivíduos com ingestão adequada. Dano de DNA não mostrou resultados significativos quando relacionados com tabagismo, anos de exposição, IMC e polimorfismo MTHFR C677T. A correlação entre dano do DNA, ingestão de folato, B6 e B12 e o polimorfismo MTHFR não apresentou significância. Em conclusão, nossos resultados indicaram que a adequação de folato para valores ≥ 320 μg /dia e vitamina B12 ≥ 2,0 μg /dia, nesta amostra exposta, estaria protegendo da ação mutagênica dos pesticidas. A dieta adequada, tanto em folato quanto em vitamina B12 poderia estar auxiliando em um reparo de DNA adequado sugerindo um fator de proteção nesses indivíduos.
Genetic damage can occur spontaneously under normal metabolic circumstances and can also be present in situations of dietary deficiency or inadequate intake of nutrients and excessive exposure to environmental mutagens. The purpose of this study was to evaluate the influence of the intake of micronutrients B12, B6 and folate and of polymorphism MTHFR C677T in the induction of DNA damage in individuals exposed to pesticides. The study involved 69 men and 41 women who were tobacco farmers in the region of Venâncio Aires (State of Rio Grande do Sul, Brasil). DNA damage was analyzed by the Comet Test and Micronucleus Test (MN); dietary intake was evaluated based on the mean of three 24-hour Diet Recall questionnaires. The nutrient intake data were computerized and estimated in the Food Processor SQL 10.9 program. The DNA damage results showed a significant increase in MN frequency in the lymphocytes of individuals who had an inadequate intake of folate and B12 (P = 0.030 and P = 0.014, respectively). No significant association was found between DNA damage and polymorphism MTHFR C677T. Correlations between DNA damage and polymorphism MTHFR C677T and nutrient intake were not significant. In conclusion, our results indicated that the adequate intake of folate (≥ 320 μg /day) and vitamin B12 (≥ 2,0 μg /day) can provide protection from the mutagenic action of pesticides. A dietary adaptation of folate and B12 can ensure adequate repair, showing that diet is a protective factor in this population.

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Berrett, Andrew Nathan. "Latent Toxoplasma gondii Infection Moderates the Association Between the C677T MTHFR Polymorphism and Cognitive Function in U.S. Adults". BYU ScholarsArchive, 2018. https://scholarsarchive.byu.edu/etd/7245.

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Sufficient blood concentrations of folate and the products from its metabolism are necessary for several cellular functions. The C677T MTHFR polymorphism, present in over half of the U.S. population, reduces the efficiency of folate metabolism and has been linked to the onset of multiple psychiatric disorders and cognitive decline. The intracellular parasite Toxoplasma gondii can infect the human brain and is associated with increased prevalence of psychiatric disorders and cognitive decline. In vitro studies have found that Toxoplasma gondii may salvage unmetabolized folate from host cells. Since the C677T MTHFR polymorphism and infection by Toxoplasma gondii both affect folate metabolism or availability, I used data from the third National Health and Nutrition Examination Survey to test the hypothesis that latent toxoplasmosis and the C677T MTHFR polymorphism interact to predict worse cognitive functioning in U.S. adults. I found a statistically significant interaction effect between Toxoplasma gondii infection and the C677T MTHFR polymorphism in predicting performance on a test of reaction time. Subjects who were not infected with Toxoplasma gondii experienced declines in reaction time with the presence of one or two alleles for the C677T MTHFR polymorphism. However, this association was reversed for subjects who were seropositive for Toxoplasma gondii. No interaction effects were observed when predicting performance on a test of processing speed or a test of short term memory. In conclusion, these findings suggest that the co-occurrence of Toxoplasma gondii infection and the C677T MTHFR polymorphism maybe associated with improved reaction time.

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Capítulos de libros sobre el tema "MTHFR C677T"

Woitalla, D., W. Kuhn y T. Müller. "MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson’s disease". En Focus on Extrapyramidal Dysfunction, 15–20. Vienna: Springer Vienna, 2004. http://dx.doi.org/10.1007/978-3-7091-0579-5_2.

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Cui, Lian-Hua, Meng Liu, Hong-Zong Si, Min-Ho Shin, Hee Nam Kim y Jin-Su Choi. "Correlation of Aberrant Methylation of APC Gene to MTHFR C677T Genetic Polymorphisms in Hepatic Carcinoma". En Lecture Notes in Electrical Engineering, 2961–68. Dordrecht: Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-7618-0_376.

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Schröder, W., A. Siegemund, J. Berrouschot, H. Voigt, B. Vorberg, H. Scheel y F. H. Herrmann. "Molekulargenetische Marker bei Patienten mit venösen und arteriellen Thrombosen: Der G20210A-Prothrombin-Polymorphismus, die C677T MTHFR-Mutation und die Faktor-V-Leiden (G1691A) Mutation". En 28. Hämophilie-Symposion Hamburg 1997, 67–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59915-6_10.

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Herrmann, F. H., W. Schröder, R. Altman, R. Jimenez Bonilla, J. L. Perez-Requejo y J. R. Singh. "Zur Prävalenz des G20210A-Prothrombin-Polymorphismus, der C677T-Mutation des MTHFR-Gens und der Faktor-V-Leiden-Mutation in Nordostdeutschland, Argentinien, Venezuela, Costa Rica und Indien". En 28. Hämophilie-Symposion Hamburg 1997, 55–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59915-6_8.

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Yates, Z. y M. D. Lucock. "C677T MTHFR Genotype is a Risk Factor for Thromboembolism: Comparison of T Allele Frequency and Homocysteine Level Between Female Thromboembolic and Non-Thromboembolic Vascular Patients, NTD Mothers and Matched NTD Controls". En Chemistry and Biology of Pteridines and Folates, 581–85. Boston, MA: Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0945-5_98.

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Gonzlez-Herrera, Lizbeth, Orlando Vargas-Sierra, Silvina Contreras-Capetillo, Gerardo Prez-Mendoza, Ileana Castillo-Zapata, Doris Pinto-Escalante, Thelma Canto de Cetina y Betzabet Quintanilla-Veg. "Association of A80G Polymorphism in the RFC1 Gene with the Risk for Having Spina Bifida-Affected Offspring in Southeast Mexico and Interaction with C677T-MTHFR". En Neural Tube Defects - Role of Folate, Prevention Strategies and Genetics. InTech, 2012. http://dx.doi.org/10.5772/31375.

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Salazar-Sanchez, Lizbeth, Juan Jose Madrigal-Sanchez, Pedro Gonzalez-Martinez, Edel Paredes, Ligia Vera-Gamboa, Norma Pavia-Ruz y Nina Valadez-Gonzalez. "ACE I/D (Rs1799752), MTHFR C677T (Rs1801133), and CCR5 D32 (Rs333) Genes and their Association with Hypertension and Diabetic Nephropathy in Urban Areas of Costa Rica, Nicaragua, and Mexico". En Update on Essential Hypertension. InTech, 2016. http://dx.doi.org/10.5772/64548.

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Actas de conferencias sobre el tema "MTHFR C677T"

de Lucas-Ramos, Pilar, Jose Miguel Rodriguez Gonzalez-Moro, Zoraida Verde Rello, Jose Luis Izquierdo Alonso, Jose Mª Bellón Cano y Catalina Santiago Dorrego. "Metylene Tetrahydrofolate Reductase (MTHFR) C677T Gene Polymorphisms In Patients With COPD". En American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a2623.

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Muthmainah, Muthmainah, Nova Kurniasari, Mohammad Fanani, Septiawan Debree y Herdaetha Adriestri. "C677T Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism and Treatment Response in Schizophrenia Patients". En Health Science International Conference (HSIC 2017). Paris, France: Atlantis Press, 2017. http://dx.doi.org/10.2991/hsic-17.2017.33.

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Lampalo, Marina, Irena Jukic, Jasna Bingulac-Popovic, Ana Hecimovic, Nikola Ferara y Sanja Popovic-Grle. "Effect of MTHFR C677T polymorphism on allergic airway disease in asthma patients". En ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4460.

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Lian-Hua Cui, Na-Li, Yun-Peng Qi, Yang-Song, Min-Ho Shin, Jin-Su Choi y Hee Nam Kim. "Correlation of aberrant methylation of p16 gene to MTHFR C677T genetic polymorphisms in Hepatic Carcinoma". En 2012 International Symposium on Information Technology in Medicine and Education (ITME 2012). IEEE, 2012. http://dx.doi.org/10.1109/itime.2012.6291426.

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Soewarlan, Widya Dwi Honesty Putri, Hedijanti Joenoes, Shafa Ahmad Bawazier, Dwi Anita Suryandari y Elza Ibrahim Auerkari. "Distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in postmenopausal Indonesian women with osteoporosis – A preliminary study". En SECOND INTERNATIONAL CONFERENCE OF MATHEMATICS (SICME2019). Author(s), 2019. http://dx.doi.org/10.1063/1.5096727.

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Lubov, Rychkova, Bolshakova Svetlana, Gomellya Marina, Bairova Tatyana, Berdina Olga y Bugun Olga. "P42 Association of c677t polymorphism of mthfr gene with hemostasis changes in adolescents with essential hypertension". En 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.130.

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Wang, Jianming, Hengchuan Xue y Hongbing Shen. "Abstract 3128: Diet folate, DNA methylation and genetic polymorphisms of MTHFR C677T in esophageal squamous cell carcinoma". En Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-3128.

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D.P. Soares, Igor, Giselle M. Faria, Marcia R. Amorim, Clovis O. da Fonseca y Thereza Quirico-Santos. "Influence of MTHFR rs1801133 (C677T) Polymorphism upon Overall Methylation Levels of Glioblastoma Patients under Inhaled Perillyl Alcohol Treatment". En International e-Conference on Cancer Research 2019. European High-tech and Emerging Research Association, 2019. http://dx.doi.org/10.28991/iccr-2019-002.

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Informes sobre el tema "MTHFR C677T"

Liu, Xudong. MTHFR Functional Polymorphism C677T and Genomic Instability in the Etiology of Idiopathic Autism in Simplex Families. Revision. Fort Belvoir, VA: Defense Technical Information Center, octubre de 2013. http://dx.doi.org/10.21236/ada600503.

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