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https://www.readbyqxmd.com/read/28299500/mthfr-and-mthfd1-gene-polymorphisms-are-not-associated-with-pseudoexfoliation-syndrome-in-south-indian-population
#1
Prakadeeswari Gopalakrishnan, Aravind Haripriya, Periasamy Sundaresan
PURPOSE: Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX. METHODS: A case-control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC)...
March 15, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28299396/no-correlation-between-mthfr-c-677-c%C3%A2-%C3%A2-t-mthfr-c-1298-a%C3%A2-%C3%A2-c-and-abcb1-c-3435-c%C3%A2-%C3%A2-t-polymorphisms-and-methotrexate-therapeutic-outcome-of-rheumatoid-arthritis-in-west-algerian-population
#2
Wefa Boughrara, Ahmed Benzaoui, Meriem Aberkane, Fatima Zohra Moghtit, Samia Dorgham, Aicha Sarah Lardjam-Hetraf, Hadjer Ouhaibi-Djellouli, Elisabeth Petit Teixeira, Abdallah Boudjema
CONTEXT: The c.677 C > T and c.1298 A > C polymorphisms of methylenetatrahydrofolate reductase (MTHFR) gene and c.3435 C > T polymorphism of ATP-Binding cassette B1 (ABCB1) gene are reported as pharmacogenetic markers, influencing the methotrexate (MTX) therapeutic outcome in rheumatoid arthritis (RA) patients. OBJECTIVES: The aims of this study were to determine the relationship between these polymorphisms and clinical response and/or adverse drug reaction (ADRs) to MTX treatment...
March 15, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28296649/a-nomogram-to-predict-5-fluorouracil-toxicity-when-pharmacogenomics-meets-the-patient
#3
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/28288890/abdominal-aortic-aneurysm-associated-microrna-516a-5p-regulates-expressions-of-methylenetetrahydrofolate-reductase-matrix-metalloproteinase-2-and-tissue-inhibitor-of-matrix-metalloproteinase-1-in-human-abdominal-aortic-vascular-smooth-muscle-cells
#4
Crystal Yin Tung Chan, Bernice Lai Yee Cheuk, Stephen Wing Keung Cheng
OBJECTIVE: MicroRNAs (miRNAs or miRs) have been highlighted to be involved in abdominal aortic aneurysm (AAA) with the emergence of recent miRNA microarray profiling studies. miR-516a-5p has been shown to be significantly overexpressed in vascular smooth muscle cells (VSMCs) from human AAA tissues from our previous microarray study, suggesting its crucial association with AAA. In addition, further bioinformatics analysis predicted methylenetetrahydrofolate reductase (MTHFR), which regulates homocysteine (Hcy) metabolism and is proposed to be a risk gene for AAA formation, to be the down-regulation target of miR-516a-5p...
March 10, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28283826/genetic-polymorphism-of-mthfr-c677t-with-preterm-birth-and-low-birth-weight-susceptibility-a-meta-analysis
#5
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/28283271/multiple-chemical-sensitivity-genotypic-characterization-nutritional-status-and-quality-of-life-in-52-patients
#6
Viviana Loria-Kohen, Helena Marcos-Pasero, Rocío de la Iglesia, Elena Aguilar-Aguilar, Isabel Espinosa-Salinas, Jesús Herranz, Ana Ramírez de Molina, Guillermo Reglero
BACKGROUND AND OBJECTIVES: Multiple chemical sensitivity (MCS) is a chronic, multisystem syndrome of unknown etiology. The aim of the present study was to describe the nutritional status and quality of life of patients suffering from MCS, as well as to identify potential polymorphisms associated with this illness. PATIENTS AND METHODS: A cross-sectional, descriptive study was performed on patients with a diagnosis of MCS. Data on anthropometric and body composition variables, hand muscle strength and quality of life were collected...
March 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28281392/lack-of-association-between-mthfr-a1298c-variant-and-alzheimer-s-disease-evidence-from-a-systematic-review-and-cumulative-meta-analysis
#7
Shumin Liu, Yongfu Wu, Xu Liu, Jiahui Zhou, Ziyou Wang, Zhiwei He, Zunnan Huang
OBJECTIVES: Previous studies have investigated the association between MTHFR A1298C (rs1801131) polymorphism and susceptibility to Alzheimer's disease (AD). Nevertheless, an ultimate conclusion remains obscure. We then executed this meta-analysis to estimate this association more precisely. METHODS: Related studies were systematically searched on PubMed, Embase, China National Knowledge Infrastructure, Google scholar, and AlzGene databases. The association was evaluated by reviewing the odds ratios (ORs) with corresponding 95% confidence intervals (CIs)...
March 10, 2017: Neurological Research
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
#8
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
#9
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
#10
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/28270024/human-mthfr-g1793a-transition-may-be-a-protective-mutation-against-male-infertility-a-genetic-association-study-and-in-silico-analysis
#11
Mohammad Karimian, Abasalt Hosseinzadeh Colagar
In this paper, we evaluate the association of the human methylenetetrahydrofolate reductase (MTHFR)-G1793A transition with male infertility using a case-control study, a meta-analysis and an in silico analysis. In the case-control study, 308 blood samples (169 infertile and 139 fertile men) were collected. MTHFR-G1793A genotyping was performed by PCR-RFLP. The study revealed a significant protective association between the GA genotype (OR: 0.3737, 95%CI: 0.1874-0.7452, p = 0.0052) and A allele (OR: 0.4266, 95%CI: 0...
March 7, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28267080/atic-gene-polymorphism-and-histologic-response-to-chemotherapy-in-pediatric-osteosarcoma
#12
Jeong A Park, Hee Young Shin
Accumulating evidence indicates that polymorphisms in folate pathway genes play a role in response to methotrexate (MTX) treatment in various diseases. This study explored the influence of these genetic polymorphisms on treatment outcome in pediatric osteosarcoma. Blood and tissue samples from 48 osteosarcoma patients were obtained, and the following polymorphisms were analyzed; SLC19A1 80G>A, DHFR 829C>T, MTHFR 677C>T, MTHFR 1298A>C, and ATIC 347C>G. We evaluated associations between these candidate gene polymorphisms and treatment outcome, including histologic response and event-free and overall survival, of patients treated with high-dose MTX...
March 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28266606/polymorphisms-and-pharmacogenomics-for-the-clinical-efficacy-of-methotrexate-in-patients-with-rheumatoid-arthritis-a-systematic-review-and-meta-analysis
#13
Qi Qiu, Jing Huang, Xiaoming Shu, Huizheng Fan, Youwen Zhou, Cheng Xiao
Methotrexate (MTX) is widely used and considered a first-line disease modifying anti-rheumatic drug (DMARD) for the treatment of rheumatoid arthritis (RA). Many of the relevant genes have been investigated to estimate the association between gene polymorphisms and MTX effectiveness in RA patients, although inconsistent results have been reported. A systematic review and meta-analysis were performed to identify genetic variants associated with MTX efficacy. A total of 30 publications that included 34 genes and 125 SNPs associated with the transporters, enzymes, and metabolites of MTX or the progression of RA were included in the systematic review (SR), and 21 studies were included in 9 meta-analyses...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28258054/thrombophilia-risk-is-not-increased-in-children-after-perinatal-stroke
#14
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/28253266/association-of-ogg1-and-mthfr-polymorphisms-with-age-related-cataract-a-systematic-review-and-meta-analysis
#15
Xiaohang Wu, Weiyi Lai, Haotian Lin, Yizhi Liu
PURPOSE: To discern and confirm genetic biomarkers that help identify populations at high risk for age-related cataract (ARC). METHODS: A literature search was performed in the PubMed, Web of Science and China National Knowledge Internet databases for genetic association studies published before June 26, 2016 regarding ARC susceptibility. All genetic polymorphisms reported were systematically reviewed, followed by extraction of candidate genes/loci with sufficient genotype data in ≥3 studies for the meta-analysis...
2017: PloS One
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
#16
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/28250422/components-of-the-folate-metabolic-pathway-and-adhd-core-traits-an-exploration-in-eastern-indian-probands
#17
Tanusree Saha, Mahasweta Chatterjee, Swagata Sinha, Usha Rajamma, Kanchan Mukhopadhyay
We investigated role of the folate-homocysteine metabolic pathway in the etiology of attention-deficit hyperactivity disorder (ADHD) due to its importance in maintaining DNA integrity as well as neurotransmission. Functional gene variants in MTR (rs1805087), CBS (rs5742905), MTHFR (rs1801133 & rs1801131), MTHFD (rs2236225), RFC1 (rs1051266), plasma vitamin B12, folate and homocysteine were analyzed. rs1805087 'A' showed strong association with ADHD. Vitamin B12 deficiency of ADHD probands (P=0.01) correlated with rs1801133 'T' and rs1805087'GG'...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28242442/genetic-biomarkers-of-posttraumatic-epilepsy-a-systematic-review
#18
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/28241805/rapidly-progressive-psychotic-symptoms-triggered-by-infection-in-a-patient-with-methylenetetrahydrofolate-reductase-deficiency-a-case-report
#19
Shin Iida, Masataka Nakamura, Shinya Asayama, Takenobu Kunieda, Satoshi Kaneko, Hitoshi Osaka, Hirofumi Kusaka
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities. CASE PRESENTATION: We herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteriorating psychosis and repetitive seizures triggered by a febrile infection prompted neurological investigation...
February 28, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28241424/exome-sequencing-in-a-family-with-luminal-type-breast-cancer-underpinned-by-variation-in-the-methylation-pathway
#20
Nicole van der Merwe, Armand V Peeters, Fredrieka M Pienaar, Juanita Bezuidenhout, Susan J van Rensburg, Maritha J Kotze
Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative breast cancer patients from the same family for WES. Homozygosity for the MTHFR 677 C>T mutation detected during this PSGT pre-screen step was considered insufficient to cause bilateral breast cancer in the index case and her daughter diagnosed with early-onset breast cancer (<30 years)...
February 22, 2017: International Journal of Molecular Sciences
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