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Mthfr c/t

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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
#1
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)...
February 23, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28215593/influence-mthfr-c677t-gene-polymorphism-in-the-development-of-cardiovascular-disease-in-egyptian-patients-with-rheumatoid-arthritis
#2
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...
February 12, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27994504/genetic-analysis-of-bdnf-gnb3-mthfr-ace-and-apoe-variants-in-major-and-recurrent-depressive-disorders-in-russia
#15
E A Bondarenko, M I Shadrina, M N Grishkina, T A Druzhkova, R G Akzhigitov, N V Gulyaeva, A B Guekht, P A Slominsky
This study was conducted to explore the possibility of association between the single-nucleotide polymorphisms rs6264 of BDNF, rs5443 of GNB3, and rs1801133 of MTHFR; the In/Del polymorphism of ACE; and the ε2 allele of APOE and major depressive disorder (MDD) and recurrent depressive disorder (RDD) in an East Slavic population. Generalized multifactor dimensionality reduction (GMDR) method was applied to detect gene-gene interactions. One hundred fifty patients with RDD (101 females and 49 males) and 208 patients with MDD (115 females and 93 males) were included in the study...
2016: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/27984609/-study-of-polymorphisms-of-genes-related-to-folic-acid-metabolism-among-women-of-child-bearing-age-from-shanxi
#16
Na Liang, Yang Deng, Yongan Zhou
OBJECTIVE: To analyze polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi. METHODS: Buccal smears were collected from 1070 women of child bearing age with cotton swabs. Sequences of MTHFR C667T and A1298C, MTRR A66G, and SLC19A1 A80G were determined by DNA sequencing. The results were compared with data from other regions of China. RESULTS: For MTHFR C667T, the wild type homozygote, heterozygous mutants, and homozygous mutants have respectively accounted for 20...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27973469/analysis-of-metabolism-related-indicators-and-mthfr-gene-polymorphism-in-patients-with-h-type-hypertension
#17
Zhi Tang, Ling Xiao, Ji-Qun Wang, Tao Zhang
BACKGROUND: This study aims to analyze the polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene in patients with hypertension, and explore the correlation between H-type hypertension and metabolic biochemical indicators such as homocysteine (Hcy). METHODS: One hundred patients with H-type hypertension and 100 patients with common hypertension were selected as the study subjects. Plasma Hcy and blood lipids, blood glucose, and other biochemical indicators were detected in the two groups...
April 2017: Minerva Medica
https://www.readbyqxmd.com/read/27905104/biomarkers-of-folate-and-vitamin-b12-and-breast-cancer-risk-report-from-the-epic-cohort
#18
M Matejcic, J de Batlle, C Ricci, C Biessy, F Perrier, I Huybrechts, E Weiderpass, M C Boutron-Ruault, C Cadeau, M His, D G Cox, H Boeing, R T Fortner, R Kaaks, P Lagiou, A Trichopoulou, V Benetou, R Tumino, S Panico, S Sieri, D Palli, F Ricceri, H B As Bueno-de-Mesquita, G Skeie, P Amiano, M J Sánchez, M D Chirlaque, A Barricarte, J R Quirós, G Buckland, C H van Gils, P H Peeters, T J Key, E Riboli, B Gylling, A Zeleniuch-Jacquotte, M J Gunter, I Romieu, V Chajès
Epidemiological studies have reported inconsistent findings for the association between B vitamins and breast cancer (BC) risk. We investigated the relationship between biomarkers of folate and vitamin B12 and the risk of BC in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Plasma concentrations of folate and vitamin B12 were determined in 2,491 BC cases individually matched to 2,521 controls among women who provided baseline blood samples. Multivariable logistic regression models were used to estimate odds ratios by quartiles of either plasma B vitamin...
March 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27881965/fundamental-role-of-methylenetetrahydrofolate-reductase-677-c%C3%A2-%C3%A2-%C3%A2-t-genotype-and-flavin-compounds-in-biochemical-phenotypes-for-schizophrenia-and-schizoaffective-psychosis
#19
Stephanie Fryar-Williams
The Mental Health Biomarker Project (2010-2016) explored variables for psychosis in schizophrenia and schizoaffective disorder. Blood samples from 67, highly characterized symptomatic cases and 67 gender and age matched control participants were analyzed for methyl tetrahydrofolate reductase (MTHFR) 677C → T gene variants and for vitamin B6, B12 and D, folate, unbound copper, zinc cofactors for enzymes in the methylation cycle, and related catecholamine pathways. Urine samples were analyzed for indole-catecholamines, their metabolites, and oxidative-stress marker, hydroxylpyrolline-2-one (HPL)...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27855570/genetics-of-suspected-thrombophilia-in-serbian-females-with-infertility-including-three-cases-homozygous-for-fii-20210a-or-fv-1691a-mutations
#20
Jelena Djurovic, Oliver Stojkovic, Jelena Todorovic, Aleksandra Brajic, Sanja Stankovic, Svetlana Obradovic, Gorana Stamenkovic
Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group...
November 18, 2016: Human Fertility: Journal of the British Fertility Society
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