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Mthfr c/t

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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
#1
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/28283826/genetic-polymorphism-of-mthfr-c677t-with-preterm-birth-and-low-birth-weight-susceptibility-a-meta-analysis
#2
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/28267080/atic-gene-polymorphism-and-histologic-response-to-chemotherapy-in-pediatric-osteosarcoma
#3
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
#4
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/28241805/rapidly-progressive-psychotic-symptoms-triggered-by-infection-in-a-patient-with-methylenetetrahydrofolate-reductase-deficiency-a-case-report
#5
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
#6
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
https://www.readbyqxmd.com/read/28231061/role-of-treatment-modifying-mthfr677c-t-and-1298a-c-polymorphisms-in-metformin-treated-puerto-rican-patients-with-type-2-diabetes-mellitus-and-peripheral-neuropathy
#7
Francisco J Jiménez-Ramírez, Liza M Castro, Clarymar Ortiz, Jennifer Concepción, Jessicca Y Renta, Raúl H Morales-Borges, Jorge R Miranda-Massari, Jorge Duconge
BACKGROUND: The study was conducted to investigate potential association between MTHFR genotypes and diabetic peripheral neuropathy (DPN) in Puerto Ricans with type-2 diabetes mellitus (T2DM) treated with metformin. The prevalence of major MTHFR polymorphisms in this cohort was also ascertained. METHODS: DNAs from 89 metformin-treated patients with T2DM and DPN were genotyped using the PCR-based RFLP assay for MTHFR677C>T and 1298A>C polymorphisms. Frequency distributions of these variants in the study cohort were compared to those reported for three reference populations (HapMap project) and controls (400 newborn specimens)...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28215593/influence-of-mthfr-c677t-gene-polymorphism-in-the-development-of-cardiovascular-disease-in-egyptian-patients-with-rheumatoid-arthritis
#8
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/28188925/impact-of-genetic-polymorphisms-in-key-enzymes-of-homocysteine-metabolism-on-the-pathophysiology-of-sickle-cell-anemia
#9
Danilo Grünig Humberto da Silva, Edis Belini Junior, Lidiane de Souza Torres, Jessika Viviani Okumura, Willian Marcel Barberino, Renan Garcia de Oliveira, Vanessa Urbinatti Teixeira, Clarisse Lopes de Castro Lobo, Eduardo Alves de Almeida, Claudia Regina Bonini-Domingos
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment. We evaluated 95 unrelated and diagnosed SCA patients. All patients received a prophylactic treatment with folic acid of 5mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22mg/kg/day)...
February 7, 2017: Free Radical Biology & Medicine
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
#10
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/28161091/associations-between-genetic-variation-in-one-carbon-metabolism-and-leukocyte-dna-methylation-in-valproate-treated-patients-with-epilepsy
#11
Guanzhong Ni, Jiaming Qin, Ziyi Chen, Hongliang Li, Jueqian Zhou, Min Huang, Liemin Zhou
BACKGROUND: Valproate (VPA) as a first-line antiepileptic drug is useful for the most types of epileptic seizure treatment. Previous studies observed that VPA influenced one-carbon metabolism (OCM), consequently, DNA methylation. However, other individual genetic variations, as well as VPA, modify DNA methylation. OBJECTIVE: In this study, we investigated associations between genetic variations in OCM and leukocyte DNA methylation in VPA-treated patients with epilepsy...
January 20, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28149021/prevalence-of-factor-v-leiden-g1691a-and-mthfr-c677t-thrombosis-gene-modifier-in-iron-deficiency-anemia-a-pathophysiological-effect-in-indian-isolates
#12
S K Pandey, S Pandey, R M Mishra, M Indurkar
Normal iron levels are required to prevent thrombocytosis by inhibiting thrombopoiesis. Thrombocytosis is usually associated with a mild iron deficiency and is the result of a lack of inhibition of thrombopoiesis. Study participants were 430 iron deficiency anemia (IDA) patients. Ten (10) mL of venous blood were collected for the subjects. Ferritin analysis was done by ELISA method while Hemogram analysis was done by auto-analyzer. Factor V Leiden, PRTG20210A, and MTHFR C677T genotype analysis was performed by PCR-RFLP method...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28133617/molecular-analysis-of-a-genetic-variants-panel-related-to-nutrients-and-metabolism-association-with-susceptibility-to-gestational-diabetes-and-cardiometabolic-risk-in-affected-women
#13
Marica Franzago, Federica Fraticelli, Antonio Nicolucci, Claudio Celentano, Marco Liberati, Liborio Stuppia, Ester Vitacolonna
Gestational diabetes mellitus (GDM) is the most frequent metabolic disorder in pregnancy. Women with a GDM history are at increased risk of developing diabetes and cardiovascular diseases. Studies have demonstrated a significant correlation between several genes involved in the metabolic pathway of insulin and environmental factors. The aim of this study was to investigate the relationship between clinical parameters in GDM and variants in genes involved with nutrients and metabolism. Several variants PPARG2 rs1801282 (C>G); PPARGC1A rs8192678 (C>T); TCF7L2 rs7903146 (C>T); LDLR rs2228671 (C>T); MTHFR rs1801133 (C>T); APOA5 rs662799 (T>C); GCKR rs1260326 (C>T); FTO rs9939609 (T>A); MC4R rs17782313 (T>C) were genotyped in 168 pregnant Caucasian women with or without GDM by High Resolution Melting (HRM) analysis...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28123304/mthfr-c677t-polymorphism-and-breast-ovarian-cancer-risk-a-meta-analysis-of-19-260-patients-and-26-364-controls
#14
Lilin He, Yongxiang Shen
OBJECTIVE: Previous studies have found that many gene variations can be detected in both breast cancer and ovarian cancer, which is beneficial for the elaboration of the molecular origin of breast and ovarian cancer. Furthermore, many studies have explored the association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with the risk of breast cancer and/or ovarian cancer; however, the results remained inconclusive. Therefore, this study conducted a systematic review and meta-analysis to evaluate the association between MTHFR C677T polymorphism and the risk of breast and ovarian cancer...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28081274/role-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-polymorphisms-in-polycystic-ovary-syndrome-risk
#15
J B Wu, J F Zhai, J Yang
Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited 244 patients and 257 control subjects from an Inner Mongolian Medical University to this hospital-based, case-control study...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28081209/mthfr-c677t-a1298c-and-ms-a2756g-gene-polymorphisms-and-male-infertility-risk-in-a-chinese-population-a-meta-analysis
#16
Zhengju Ren, Pengwei Ren, Bo Yang, Kun Fang, Shangqing Ren, Jian Liao, Shengzhuo Liu, Liangren Liu, Zhufeng Peng, Qiang Dong
BACKGROUND: Methylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C) and methionine synthase gene (MS A2756G) polymorphisms have shown an association with male infertility risk in several ethnic populations. Although several studies have evaluated these associations in Chinese populations, their small sample sizes and inconsistent outcomes have prevented strong conclusions. Therefore, the present meta-analysis was performed with published studies to evaluate the associations of the three single nucleotide polymorphisms (SNPs) and male infertility in a Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28028860/possible-association-between-germline-methylenetetrahydrofolate-reductase-gene-polymorphisms-and-psoriasis-risk-in-a-turkish-population
#17
S Kilic, O Ozdemir, F Silan, S Isik, O Yildiz, D Karaagacli, C Silan, Z Ogretmen
BACKGROUND: Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. AIM: To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. METHODS: The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#18
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28004270/determinants-of-folate-and-vitamin-b12-plasma-levels-in-the-french-e3n-epic-cohort
#19
Jordi de Batlle, Marco Matejcic, Veronique Chajes, Hortensia Moreno-Macias, Amina Amadou, Nadia Slimani, David G Cox, Françoise Clavel-Chapelon, Guy Fagherazzi, Isabelle Romieu
PURPOSE: Impaired B vitamin status has been identified as a risk factor for major chronic diseases. This study aims at examining the determinants of plasma folate and vitamin B12 concentrations, considering lifestyle factors and MTHFR polymorphisms. METHODS: A total of 988 women aged 40-65 years from the French E3N cohort were investigated. Intakes of folate and vitamin B12 were assessed using food frequency questionnaires, and plasma concentrations were measured by microbiological assay...
December 21, 2016: European Journal of Nutrition
https://www.readbyqxmd.com/read/27999448/thrombosis-related-abo-f5-mthfr-and-fgg-gene-polymorphisms-in-morbidly-obese-patients
#20
Kristina Kupcinskiene, Martyna Murnikovaite, Greta Varkalaite, Simonas Juzenas, Darius Trepenaitis, Ruta Petereit, Almantas Maleckas, Juozas Kupcinskas, Andrius Macas
Objective. Obesity is a well-known risk factor for thrombotic complications. The aim of the present study was to determine the frequency of thrombosis related ABO, F5, MTHFR, and FGG gene polymorphisms in morbidly obese patients and compare them with the group of nonobese individuals. Methods. Gene polymorphisms were analyzed in 320 morbidly obese patients (BMI > 40 kg/m(2)) and 303 control individuals (BMI < 30 kg/m(2)) of European descent. ABO C>T (rs505922), F5 C>G (rs6427196), MTHFR C>T (rs1801133), and FGG C>T (rs6536024) SNPs were genotyped by RT-PCR...
2016: Disease Markers
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