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MTHFR C677T

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https://www.readbyqxmd.com/read/28430351/c677t-and-a1298c-polymorphisms-of-methylene-tetrahydrofolate-reductase-in-non-hodgkin-lymphoma-southeast-iran
#1
Mohammad Ali Mashhadi, Ebrahim Miri-Moghaddam, Narges Arbabi, Ali Bazi, Zahra Heidari, Zahra Sepehri, Azra Karimkoshte, Alireza Rezvan, Seyed Mahdi Hashemi
PURPOSE: Polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene have been reported as risk factors for non-Hodgkin lymphoma (NHL) in some populations. Our goal was to evaluate the potential role of A1298C and C677T polymorphisms of MTHFR in risk of NHL in southeast Iran. METHODS: In the present case-control study, 127 patients with newly diagnosed NHL along with 150 ethnicity- and age-matched controls were examined. The A1298C and C677T polymorphisms were genotyped using the Tetra Amplification Refractory Mutation System polymerase chain reaction method...
April 14, 2017: Tumori
https://www.readbyqxmd.com/read/28409162/synergistic-effect-of-the-mthfr-c677t-and-ephx2-g860a-polymorphism-on-the-increased-risk-of-ischemic-stroke-in-chinese-type-2-diabetic-patients
#2
Liang Ma, Yongwei Jiang, Xiaomu Kong, Meihua Yan, Tingting Zhao, Hailing Zhao, Qian Liu, Haojun Zhang, Yongtong Cao, Ping Li
The aim of this study was to investigate the relationship between the combined effect of MTHFR C677T (rs1801133) and EPHX2 G860A (rs751141) polymorphism and ischemic stroke in Chinese T2DM patients. This case-control study included a total of 626 Chinese T2DM patients (236 T2DM patients with ischemic stroke and 390 T2DM patients without ischemic stroke). The rs1801133 and rs751141 were genotyped using real-time polymerase chain reaction. Statistical analysis was performed with SPSS 17.0. Results showed that the combined effect of MTHFR TT and EPHX2 GG or GA + AA genotype has a higher risk of ischemic stroke compared with the control group (combined effect of MTHFR CC and EPHX2 GA + AA genotypes; OR = 3...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28400561/a-hybrid-stochastic-model-of-folate-mediated-one-carbon-metabolism-effect-of-the-common-c677t-mthfr-variant-on-de-novo-thymidylate-biosynthesis
#3
Karla Misselbeck, Luca Marchetti, Martha S Field, Marco Scotti, Corrado Priami, Patrick J Stover
Folate-mediated one-carbon metabolism (FOCM) is an interconnected network of metabolic pathways, including those required for the de novo synthesis of dTMP and purine nucleotides and for remethylation of homocysteine to methionine. Mouse models of folate-responsive neural tube defects (NTDs) indicate that impaired de novo thymidylate (dTMP) synthesis through changes in SHMT expression is causative in folate-responsive NTDs. We have created a hybrid computational model comprised of ordinary differential equations and stochastic simulation...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28398657/study-exploring-the-effects-of-daily-supplementation-with-400-%C3%AE-g-of-folic-acid-on-the-nutritional-status-of-folate-in-women-of-reproductive-age
#4
Laidy D Arias, Beatriz E Parra, Angélica M Muñoz, Diana L Cárdenas, Tiffany G Duque, Luz M Manjarrés
BACKGROUND: This investigation determines the nutritional state of serum and red blood cell (RBC) folate concentration and their relation with intake of folate, B6 ,and B12 , with serum vitamin B12 , and with genetic variants after provision of 400 μg/day of folic acid for 3 months to a group of 34 Colombian women of reproductive age. METHODS: We evaluated nutrient intake using 24-hr recall, assessing the levels of serum folate, RBC folate, serum B12 , and homocysteine, as well as determining genetic variants of the enzyme MTHFR (C677T and A1298C) and CβS (844ins68pb)...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397480/genetic-polymorphism-of-mthfr-c677t-influences-susceptibility-to-hbv-related-hepatocellular-carcinoma-in-a-chinese-population-a-case-control-study
#5
Kunyan Qiao, Shitian Zhang, Congdoanh Trieu, Qinghai Dai, Zhixiao Huo, Yanan Du, Wei Lu, Wei Hou
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) is the key enzyme of folic acid metabolism and the C677T mutation is associated with decreased enzyme activity. Several studies have shown its regulatory role in carcinogenesis and tumor growth. HBV (hepatitis B virus)-related HCC (hepatocellular carcinoma) is one of the most common liver cancers worldwide. Therefore, the present case-control study aimed to investigate the role of genetic polymorphism of MTHFR C677T in the development and progression of HBV-related HCC in a Chinese population...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28397471/interactions-of-methylenetetrahydrofolate-reductase-gene-polymorphisms-folate-and-homocysteine-on-blood-pressure-in-a-chinese-hypertensive-population
#6
Wen-Xing Li, Peng Liao, Chao-Yue Hu, Fei Cheng, Tao Zhang, Yuan-Yuan Sun, Ling Tang, Man-Man Wang, Kui-Sheng Liu, Dahai Liu, Fang Liu
BACKGROUND: High blood pressure is related to cardiovascular diseases. We aimed to explore the interactions of methylenetetrahydrofolate reductase (MTHTR) gene C677T and A1298C mutations and folate/homocysteine (Hcy) status on blood pressure in a Chinese hypertensive population. METHODS: The clinical data in the present study derived from a previous trial (NCT00520247). Genotypes in Hcy pathway enzymes were detected by PCR-RFLP methods. Supine blood pressure was measured with a mercury sphygmomanometer...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28397463/colorectal-cancer-carcinogenesis-a-multivariate-genetic-model-in-a-cohort-of-romanian-population
#7
Lucia M Procopciuc, Gelu Osian, Mihaela Iancu
BACKGROUND: The molecular mechanism of carcinogenesis of sporadic colorectal cancer (CRC) involves genes with roles in folate metabolism, genes involved in metabolization of carcinogenic compounds from diet and tobacco smoke, and genes related to the DNA repair process. The aim of the study was to examine whether the MTHFRC677T, MTHFR- A1298C, TS-2rpt/3rpt, TS-1494del6bp, NAT2*5C-C481T, NAT2*5A-T341C, NAT2*6B-G590A, NAT2*7B-G857A, NAT2*18-A845C, GSTM1-null, XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln genetic variations are associated with CRC prognosis, in the presence of environmental and demographic factors...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28392709/mthfr-polymorphisms-in-childhood-acute-lymphoblastic-leukemia-influence-on-methotrexate-therapy
#8
REVIEW
Maitane Umerez, Ángela Gutierrez-Camino, Carmen Muñoz-Maldonado, Idoia Martin-Guerrero, Africa Garcia-Orad
Methotrexate (MTX) is an important component in the therapy used to treat childhood acute lymphoblastic leukemia (ALL). Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme for MTX pharmacokinetics. Two single-nucleotide polymorphisms in MTHFR gene, C677T and A1298C, affecting MTHFR activity, have been widely studied as potential markers of MTX toxicity and/or outcome in pediatric ALL. In this review, we show that the majority of published reports do not find association or present opposite effect. Therefore, MTHFR C677T and A1298C polymorphisms do not seem to be good markers of MTX-related toxicity and/or outcome in pediatric ALL...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28375104/polymorphisms-in-mthfr-ms-and-cbs-genes-and-premature-acute-myocardial-infarction-in-a-pakistani-population
#9
Mohammad Perwaiz Iqbal, Khalida Iqbal, Asal Khan Tareen, Siddiqa Parveen, Naseema Mehboobali, Ghulam Haider, Saleem Perwaiz Iqbal
High prevalence of premature coronary heart disease in Pakistanis compared to other populations points towards the genetic predisposition of this population to develop this disease. Since no investigations have been carried out in Pakistan to study the relationship of polymorphisms in genes involved in homocysteine cycle, the objective of the present study was to find out if there is any association of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C; methionine synthase (MS) A2756G; cystathionine-β-synthase (CBS) 844ins68, G919A polymorphisms with premature acute myocardial infarction (AMI) in a population of Pakistani patients with this disease...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28363185/associations-of-c677t-polymorphism-in-methylenetetrahydrofolate-reductase-mthfr-gene-with-male-infertility-risk-a-meta-analysis
#10
Hui-Hui Hong, Yan Hu, Xiao-Qing Yu, Liang Zhou, Mo-Qi Lv, Ying Sun, Wen-Juan Ren, Dang-Xia Zhou
PURPOSE: Methylenetetrahydrofolate reductase is one of the key enzymes in folate metabolism. But the association between polymorphism and the risk of male infertility is still controversial. Therefore, this study used a meta-analysis on the collection of data to analyze MTHFR gene C677T polymorphism (known as c.665 C>T, rs1801133, p.Ala222Val). METHODS: PubMed, EMBASE, China National Knowledge Infrastructure (CNKI), and Wan fang. Data were searched to identify eligible studies...
March 4, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28353639/influence-of-mthfr-genetic-background-on-p16-and-mgmt-methylation-in-oral-squamous-cell-cancer
#11
Nadia Ferlazzo, Monica Currò, Angelo Zinellu, Daniela Caccamo, Gaetano Isola, Valeria Ventura, Ciriaco Carru, Giovanni Matarese, Riccardo Ientile
Genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) enzyme may influence DNA methylation. Alterations in DNA methylation patterns of genes involved in the regulation of the cell cycle, DNA repair, cell adherence and metastasis process are known to contribute to cancer development. In this study, the influence of the MTHFR C677T and A1298C gene polymorphisms on global DNA methylation and site-specific methylation on p16 and O⁶-methylguanine-DNA methyltransferase (MGMT) gene promoters was investigated in patients with oral squamous cell cancer (OSCC)...
March 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28342207/genetic-effect-of-mthfr-c677t-polymorphism-on-the-structural-covariance-network-and-white-matter-integrity-in-alzheimer-s-disease
#12
Yu-Tzu Chang, Shih-Wei Hsu, Shih-Jen Tsai, Ya-Ting Chang, Chi-Wei Huang, Mu-En Liu, Nai-Ching Chen, Wen-Neng Chang, Jung-Lung Hsu, Chen-Chang Lee, Chiung-Chih Chang
The 677 C to T transition in the MTHFR gene is a genetic determinant for hyperhomocysteinemia. We investigated whether this polymorphism modulates gray matter (GM) structural covariance networks independently of white-matter integrity in patients with Alzheimer's disease (AD). GM structural covariance networks were constructed by 3D T1-magnetic resonance imaging and seed-based analysis. The patients were divided into two genotype groups: C homozygotes (n = 73) and T carriers (n = 62). Using diffusion tensor imaging and white-matter parcellation, 11 fiber bundle integrities were compared between the two genotype groups...
March 25, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28341195/methylenetetrahydrofolate-reductase-mthfr-c677t-and-a1298c-polymorphisms-and-vascular-complications-in-patients-with-type-2-diabetes
#13
Najiba Fekih-Mrissa, Meriem Mrad, Hazard Ibrahim, Imen Akremi, Aicha Sayeh, Amel Jaidane, Haroun Ouertani, Borni Zidi, Nasreddine Gritli
OBJECTIVES: To assess whether 2 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, are risk factors for vascular complications in Tunisian patients with type 2 diabetes mellitus. METHODS: The MTHFR polymorphisms were genotyped, and plasma homocysteine levels were evaluated in 160 Tunisian patients with type 2 diabetes mellitus. RESULTS: Prevalence of the 2 heterozygous polymorphisms of the thermolabile MTHFR gene (CT and AC) was encountered more commonly in patients with diabetes mellitus than in the healthy controls (p<10(-3))...
March 21, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28330681/can-mthfr-c677t-and-a1298c-polymorphisms-alter-the-risk-and-severity-of-sporadic-breast-cancer-in-brazilian-women
#14
Luciana Montes Rezende, Fernando Augusto Lima Marson, Carmen Sílvia Passos Lima, Carmen Sílvia Bertuzzo
INTRODUCTION: Polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) modify the risk and severity of sporadic breast cancer (BC). In this context, the MTHFR C677T and A1298C polymorphisms have been associated with risk and severity of sporadic BC. PATIENTS AND METHODS: In total, 253 women with BC and 257 controls were enrolled in this study. Polymorphisms were analyzed using restriction fragment length polymorphism - polymerase chain reaction. Epidemiology, tumor characteristics, and reproductive factors were considered in the analysis...
February 16, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/28296649/a-nomogram-to-predict-5-fluorouracil-toxicity-when-pharmacogenomics-meets-the-patient
#15
Andrea Botticelli, Concetta E Onesti, Lidia Strigari, Mario Occhipinti, Francesca R Di Pietro, Bruna Cerbelli, Antonella Petremolo, Elisabetta Anselmi, Serena Macrini, Michela Roberto, Rosa Falcone, Luana Lionetto, Marina Borro, Annalisa Milano, Giovanna Gentile, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
Fluoropyrimidines combined with other agents are commonly used for gastrointestinal cancer treatment. Considering that severe toxicities occur in 30% of patients, we aimed to structure a nomogram to predict toxicity, based on metabolic parameter and patients' characteristics. We retrospectively enrolled patients affected by gastrointestinal tract cancers. Pretreatment 5-fluorouracil (5-FU) degradation rate and DPYD, TSER, MTHFR A1298T, and C677T gene polymorphisms were characterized. Data on toxicities were collected according to CTCAE v3...
June 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28283826/genetic-polymorphism-of-mthfr-c677t-with-preterm-birth-and-low-birth-weight-susceptibility-a-meta-analysis
#16
Han Wu, Ping Zhu, Xingyi Geng, Zhong Liu, Liangliang Cui, Zhongchun Gao, Baofa Jiang, Liping Yang
PURPOSE: This study aimed at clarifying the association of maternal and neonatal methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with preterm birth (PTB) and low birth weight (LBW) susceptibility, respectively. MATERIALS AND METHODS: A systematic search of Embase, Medline, China Biological Medicine Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang Database was performed before June, 2016. The frequencies of maternal and neonatal MTHFR C677T genotypes in the cases and controls and other information were extracted by two independent investigators...
March 10, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28277784/association-between-mthfr-c677t-polymorphism-and-methotrexate-treatment-outcome-in-rheumatoid-arthritis-patients-a-systematic-review-and-meta-analysis
#17
Wenjing Shao, Yi Yuan, Yuying Li
PURPOSE: Methotrexate (MTX) is one of the most widely used disease-modifying antirheumatic drugs for the treatment of rheumatoid arthritis (RA). However, its efficacy in RA patients is variable and unpredictable. Methylene tetrahydrofolate reductase (MTHFR) is an important enzyme in the MTX pathway and is involved in folate metabolism and DNA synthesis. Several studies have examined the association between the MTHFR C677T polymorphism and MTX toxicity and efficacy in RA, but their conclusions remain controversial...
March 9, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28271696/folate-deficiency-and-gene-polymorphisms-of-mthfr-mtr-and-mtrr-elevate-the-hyperhomocysteinemia-risk
#18
Wen-Xing Li, Fei Cheng, A-Jie Zhang, Shao-Xing Dai, Gong-Hua Li, Wen-Wen Lv, Tao Zhou, Qiang Zhang, Hong Zhang, Tao Zhang, Fang Liu, Dahai Liu, Jing-Fei Huang
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...
March 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28271684/methylene-tetrahydrofolate-reductase-gene-polymorphism-is-associated-with-severity-of-liver-steatosis-in-chronically-infected-patients-with-hcv-genotype-4
#19
Reham M Dawood, Eman M Mahmoud, Marwa K Ibrahim, Noha G Bader El Din, Ahmed Aboul-Enein, Naglaa Zayed, Yasmine S El Abd, Hadeel G Eldeen, Rasha Eletreby, Marwa Elsharkawy, Moataza Omran, Reem El-Shenawy, Sayed A Fayed, Mostafa K El Awady
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism was reported as a genetic variant in liver steatosis and fibrosis. This is a study of the association between MTHFR C677T polymorphism and HCV core with severity of steatosis in HCV GT4 patients. METHODS: 111 HCV patients and 112 control subjects were recruited. Polymorphism was detected by RFLP analysis, core Ag was detected by ELISA. RESULTS: Combined HCV infection and MTHFR C677T polymorphism increases the risk to develop steatosis by 3...
March 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28258054/thrombophilia-risk-is-not-increased-in-children-after-perinatal-stroke
#20
Colleen Curtis, Aleksandra Mineyko, Patricia Massicotte, Michael Leaker, Xiu Yan Jiang, Amalia Floer, Adam Kirton
Perinatal stroke causes cerebral palsy and lifelong disability. Specific diseases are definable but mechanisms are poorly understood. Evidence suggests possible associations between arterial perinatal stroke and prothrombotic disorders but population-based, controlled, disease-specific studies are limited. Understanding thrombophilia in perinatal stroke informs pathogenesis models and clinical management. We conducted a population-based, prospective, case-control study to determine the association of specific perinatal stroke diseases with known thrombophilias...
March 3, 2017: Blood
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