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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
#1
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
#2
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
#3
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/28317214/characterization-of-blood-flow-through-intrapulmonary-arteriovenous-anastomoses-and-patent-foramen-ovale-at-rest-and-during-exercise-in-stroke-and-transient-ischemic-attack-patients
#4
Rinaldo Romac, Otto Barak, Duska Glavas, Zora Susilovic Grabovac, Petar Lozo, Igor Roje, Kresimir Caljkusic, Irena Drmic-Hofman, James T Davis, Zeljko Dujic, Andrew T Lovering
OBJECTIVES: We determined whether stroke and/or TIA subjects have exercise-induced blood flow through intrapulmonary arteriovenous anastomoses (QIPAVA ) and/or patent foramen ovale (QPFO ) and a genetic predisposition for ischemic stroke. METHODS: Twenty-eight stroke and/or TIA subjects (33-63 years old) underwent transthoracic saline contrast echocardiography concomitant with transcranial Doppler to detect QIPAVA and QPFO at rest and during supine exercise with and without breathing 100% O2 ...
March 19, 2017: Echocardiography
https://www.readbyqxmd.com/read/28296649/a-nomogram-to-predict-5-fluorouracil-toxicity-when-pharmacogenomics-meets-the-patient
#5
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...
March 14, 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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28252168/interactions-among-methylenetetrahydrofolate-reductase-mthfr-and-cystathionine-%C3%AE-synthase-cbs-polymorphisms-a-cross-sectional-study-multiple-heterozygosis-as-a-risk-factor-for-higher-homocysteine-levels-and-vaso-occlusive-episodes
#11
F M Amaral, A L Miranda-Vilela, G S Lordelo, I F Ribeiro, M B Daldegan, C K Grisolia
High plasma homocysteine (Hcy) ​​levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a possible association between these polymorphisms and the clinical variability. Blood samples of Brazilian patients with a diagnosis of thrombosis were submitted to genotyping by PCR-based methods and serum dosages of folic acid, vitamin B12 and Hcy...
February 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28242442/genetic-biomarkers-of-posttraumatic-epilepsy-a-systematic-review
#12
REVIEW
Devyn Cotter, Andrew Kelso, Aidan Neligan
INTRODUCTION: Posttraumatic epilepsy (PTE) is caused by traumatic brain injury (TBI) and is an important contributor to the overall social and economic burden of epilepsy. Epidemiological studies suggest that there is a genetic contribution to the development of PTE. Identification of clinically useful genetic biomarkers is important for advancements in diagnosis and treatment of PTE. METHODS: A systematic review was performed on the existing literature of genetic biomarkers of posttraumatic epilepsy (PTE)...
February 9, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28236470/effect-of-alcohol-and-its-metabolites-in-lung-cancer-capua-study
#13
Sara M Álvarez-Avellón, Ana Fernández-Somoano, Eva M Navarrete-Muñoz, Jesús Vioque, Adonina Tardón
BACKGROUND AND OBJECTIVE: Alcohol and its metabolites play an important role in carcinogenesis. This effect could be modulated by polymorphisms in genes encoding enzymes involved in the metabolism of alcohol and folate. Therefore, we analyzed the effect of alcohol consumption and ADH1B Arg48His, ADH1B Arg370Cys, ADH1C Ile349Val, ALDH2 Glu540Lys, CYP2E1 RsaI, CYP2E1 DraI, CYP2E1 TaqI and MTHFR C677T polymorphisms on the risk of developing lung cancer. PATIENTS AND METHODS: We included 876 lung cancer cases and 840 controls of the CAPUA hospital-based case-control study...
February 21, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28225483/homocysteine-and-all-cause-mortality-in-hypertensive-adults-without-pre-existing-cardiovascular-conditions-effect-modification-by-mthfr-c677t-polymorphism
#14
RANDOMIZED CONTROLLED TRIAL
Benjamin Xu, Xiangyi Kong, Richard Xu, Yun Song, Lishun Liu, Ziyi Zhou, Rui Gu, Xiuli Shi, Min Zhao, Xiao Huang, Mingli He, Jia Fu, Yefeng Cai, Ping Li, Xiaoshu Cheng, Changyan Wu, Fang Chen, Yan Zhang, Genfu Tang, Xianhui Qin, Binyan Wang, Hao Xue, Yundai Chen, Ye Tian, Ningling Sun, Yimin Cui, Fan Fan Hou, Jianping Li, Yong Huo
BACKGROUND: Previous studies support an association between elevated total homocysteine (tHcy) levels and increased all-cause mortality. However, few prospective studies have examined this association in hypertensive patients, and/or tested any effect modification by the methylene tetrahydrofolate reductase (MTHFR) C677T genotype. METHODS: This was a post hoc analysis of the China Stroke Primary Prevention Trial. Serum tHcy and folate were measured at baseline. Individual MTHFR C677T genotype (CC, CT, and TT) was determined...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28215593/influence-of-mthfr-c677t-gene-polymorphism-in-the-development-of-cardiovascular-disease-in-egyptian-patients-with-rheumatoid-arthritis
#15
Tarek A Abd El-Aziz, Rasha H Mohamed
OBJECTIVE: To investigate the association between increased carotid intima-media thickness (CIMT), homocysteine level, and MTHFR C677T (rs1801133) gene polymorphism in Egyptian people with rheumatoid arthritis (RA). SUBJECTS AND METHODS: 280 Egyptian women (160 RA patients and 120 controls) were included in the study. CIMT was measured using high resolution B-mode ultrasonography and homocysteine levels were measured using enzyme-linked immunosorbent assay. While, MTHFR C677T polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism...
April 30, 2017: Gene
https://www.readbyqxmd.com/read/28211809/the-methylenetetrahydrofolate-reductase-c677t-polymorphism-and-risk-for-late-onset-alzheimer-s-disease-further-evidence-in-an-italian-multicenter-study
#16
Andrea Stoccoro, Pierpaola Tannorella, Maria Grazia Salluzzo, Raffaele Ferri, Corrado Romano, Benedetta Nacmias, Gabriele Siciliano, Lucia Migliore, Fabio Coppedè
BACKGROUND: A functional polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, namely C677T (rs1801133), results in increased Hcy levels and has been associated with risk of late-onset Alzheimer's disease (LOAD). Many investigators reported association between rs1801133 and LOAD risk in Asian populations and in carriers of the apolipoprotein E (APOE) ɛ4 allele, but recent meta-analyses suggest a contribution also in other populations, including Caucasians and/or northern Africans...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28187987/association-between-c677t-polymorphism-of-mthfr-gene-and-risk-of-amyotrophic-lateral-sclerosis-polish-population-study-and-a-meta-analysis
#17
Kamila Żur-Wyrozumska, Joanna Pera, Anna Dziubek, Małgorzata Sado, Aleksandra Golenia, Agnieszka Słowik, Tomasz Dziedzic
OBJECTIVE: Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the meta-analysis assessing the significance this polymorphism for the risk of ALS in Caucasian population...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#18
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
https://www.readbyqxmd.com/read/28175955/associations-between-c677t-and-a1298c-polymorphisms-of-mthfr-and-susceptibility-to-rheumatoid-arthritis-a-systematic-review-and-meta-analysis
#19
Yi Yuan, Wenjing Shao, Yuying Li
Methylenetetrahydrofolatereductase (MTHFR) is an important enzyme involved in folate metabolism and DNA synthesis. Although a number of studies have examined the association of the MTHFR C677T and A1298C polymorphisms with susceptibility to rheumatoid arthritis (RA), the conclusions are controversial. A comprehensive literature search using PubMed, Embase, the Cochrane Library, CNKI and Wanfang databases was conducted for relevant studies on the association between MTHFR polymorphisms and RA risk. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using fixed- and random-effect models...
February 7, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28149369/the-effect-of-the-mthfr-c677t-mutation-on-athletic-performance-and-the-homocysteine-level-of-soccer-players-and-sedentary-individuals
#20
Nurten Dinç, Selda Bereket Yücel, Fatma Taneli, Metin Vehbi Sayın
This study investigated athletic performance and homocysteine (Hcy) levels in relation to the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and explored the relationship between this mutation and other cardiac risk factors in soccer players and sedentary individuals. The study groups consisted of randomly selected soccer players (n=48) from the Turkish Super and Major League and sedentary male students (n=48) aged 18-27. Anthropometric variables, aerobic and anaerobic thresholds were measured, furthermore, biochemical assays were performed...
June 1, 2016: Journal of Human Kinetics
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