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MTHFR and well-being

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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
#1
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/28250422/components-of-the-folate-metabolic-pathway-and-adhd-core-traits-an-exploration-in-eastern-indian-probands
#2
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/28241805/rapidly-progressive-psychotic-symptoms-triggered-by-infection-in-a-patient-with-methylenetetrahydrofolate-reductase-deficiency-a-case-report
#3
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/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/28145780/cilioretinal-artery-vasculogenesis-might-be-promoted-by-plasminogen-activator-inhibitor-1-5g-allele
#5
Sarenur Yilmaz, Aylin Ardagil, Ibrahim Akalin, Meltem Guzin Altinel, Yasar Dag, Esra Kurum, Efe Koyun, Sevil Ari Yaylali, Huseyin Bayramlar
BACKGROUND: Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryonic life. METHODS: We assessed plasminogen activator inhibitor-1 (PAI-1) 4G/5G, methylenetetrahydrofolatereductase (MTHFR), FACTOR V LEIDEN and PROTHROMBIN gene polymorphisms on 130 patients [82/48 females/males; Median age: 57 (18-84) with visible CAs and 100 (64/36: female/male; Median age: 55 (19-90)] without visible CAs...
February 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28138253/association-of-mthfr-c677t-and-a1298c-polymorphisms-with-oral-cancer-susceptibility-evidence-from-a-meta-analysis
#6
Sui Jiang, Jin-Dong Xu, Zhen-Jian Zhuo, Zhu-Ming Hua
Methylenetetrahydrofolate reductase (MTHFR) is a central enzyme involved in folate metabolism and plays an important role in DNA synthesis and methylation. Several studies have been conducted to illustrate the associations between MTHFR C677T and A1298C polymorphisms with oral cancer susceptibility; however, the results are inconsistent. Therefore, we conducted an updated meta-analysis to obtain a more reliable estimation of the associations. We retrieved eligible studies from PubMed, EMBASE, and CBM databases through September 2016...
2017: OncoTargets and Therapy
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
#7
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/28031756/does-the-mthfr-a1298c-polymorphism-modulate-the-cardiorespiratory-response-to-training
#8
Paweł Cięszczyk, Aleksandra Zarębska, Zbigniew Jastrzębski, Michał Sawczyn, Izabela Kozakiewicz-Drobnik, Agata Leońska-Duniec, Mariusz Kaczmarczyk, Agnieszka Maciejewska-Skrendo, Piotr Żmijewski, Grzegorz Trybek, Wojciech Smółka, Jan Pilch, Katarzyna Leźnicka, Ewelina Lulińska-Kuklik, Marek Sawczuk, Myosotis Massidda
The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) A1298C polymorphic variant is a candidate to explain the individual differences in trainability and response to exercise training. Therefore, the aim of the study was to verify whether the A1298C polymorphism influenced the aerobic and anaerobic performance as well as body and mass composition in young Polish women following low-high impact aerobic exercise training. Two hundred and one women aged 21 ± 1 years (range 19-24) were included in the study...
December 1, 2016: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#9
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/27999448/thrombosis-related-abo-f5-mthfr-and-fgg-gene-polymorphisms-in-morbidly-obese-patients
#10
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/27871254/familial-aggregation-of-albuminuria-and-arterial-hypertension-in-an-aboriginal-australian-community-and-the-contribution-of-variants-in-ace-and-tp53
#11
David L Duffy, Stephen P McDonald, Beverley Hayhurst, Sianna Panagiotopoulos, Trudy J Smith, Xing L Wang, David E Wilcken, Natalia L Duarte, John Mathews, Wendy E Hoy
BACKGROUND: Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partly due to recognized environmental and lifestyle risk factors, but a contribution of genetic susceptibility is also likely. METHODS: Using results from a comprehensive survey of one community (N = 1350 examined individuals), we have tested for familial aggregation of plasma glucose, arterial blood pressure, albuminuria (measured as urinary albumin to creatinine ratio, UACR) and estimated glomerular filtration rate (eGFR), and quantified the contribution of variation at four candidate genes (ACE; TP53; ENOS3; MTHFR)...
November 21, 2016: BMC Nephrology
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
#12
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
https://www.readbyqxmd.com/read/27846189/the-plausible-association-of-mthfr-and-adora2a-polymorphisms-with-nodules-in-rheumatoid-arthritis-patients-treated-with-methotrexate
#13
Tomas Soukup, Martin Dosedel, Jana Nekvindova, Ales Antonin Kubena, Ilja Tacheci, Jurjen Duintjer Tebbens, Jiri Vlcek, Petr Bradna, Ivan Barvik, Petr Pavek
OBJECTIVE: The treatment of rheumatoid arthritis (RA) patients with methotrexate (MTX) is linked to the development or progression of rheumatoid nodules. The aim of this study was to determine whether folate and adenosine pathways-related single nucleotide polymorphisms might be predictive of increased nodule formation in RA patients treated with oral MTX. METHODS: A total of 185 Caucasian RA patients were enrolled in this cross-sectional study, all of whom fulfilled the 1987 RA criteria of the American College of Rheumatology; each patient had a history of MTX treatment...
November 14, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27720779/riboflavin-mthfr-genotype-and-blood-pressure-a-personalized-approach-to-prevention-and-treatment-of-hypertension
#14
REVIEW
Helene McNulty, J J Strain, Catherine F Hughes, Mary Ward
Hypertension is the leading risk factor contributing to mortality worldwide, primarily from cardiovascular disease (CVD), while effective treatment of hypertension is proven to reduce CVD events. Along with the well recognized nutrition and lifestyle determinants, genetic factors are implicated in the development and progression of hypertension. In recent years genome-wide association studies have identified a region near the gene encoding the folate-metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR) among eight loci associated with blood pressure...
February 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/27569869/the-role-of-pharmacogenetics-in-capecitabine-efficacy-and-toxicity
#15
REVIEW
S W Lam, H J Guchelaar, E Boven
Capecitabine is an oral prodrug of 5-fluorouracil (5-FU) and approved for treatment of various malignancies. Hereditary genetic variants may affect a drug's pharmacokinetics or pharmacodynamics and account for differences in treatment response and adverse events among patients. In this review we present the current knowledge on genetic variants, commonly single-nucleotide polymorphisms (SNPs), tested in cohorts of cancer patients and possibly useful for prediction of capecitabine efficacy or toxicity. Capecitabine is activated to 5-FU by CES, CDA and TYMP, of which SNPs in CDA and CES2 were found to be associated with efficacy and toxicity...
November 2016: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/27557140/the-tyms-tser-polymorphism-is-associated-with-toxicity-of-low-dose-capecitabine-in-patients-with-advanced-gastrointestinal-cancer
#16
Adriana Romiti, Michela Roberto, Chiara D'Antonio, Concetta E Onesti, Viola Barucca, Annalisa Milano, Giovanna Gentile, Luana Lionetto, Emanuela Medda, Federica Mazzuca, Andrea Botticelli, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti
Low doses of drugs delivered at close, regular intervals are increasingly being used to manage patients with different neoplasms. Despite the good tolerability, treatment-related adverse events still occur following metronomic protocols. The aim of this study was to retrospectively investigate whether polymorphisms of different genes involved in fluoropyrimidine metabolism and 5-fluorouracil (5-FU) degradation rate were associated with the outcome of a low-dose capecitabine schedule. Genotyping of DPYD IVS14+1 G>A, MTHFR C677T, and A1298C single-nucleotide polymorphisms was performed by pyrosequencing technology...
November 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27452984/pacsin2-polymorphism-is-associated-with-thiopurine-induced-hematological-toxicity-in-children-with-acute-lymphoblastic-leukaemia-undergoing-maintenance-therapy
#17
Alenka Smid, Natasa Karas-Kuzelicki, Janez Jazbec, Irena Mlinaric-Rascan
Adequate maintenance therapy for childhood acute lymphoblastic leukemia (ALL), with 6-mercaptopurine as an essential component, is necessary for retaining durable remission. Interruptions or discontinuations of the therapy due to drug-related toxicities, which can be life threatening, may result in an increased risk of relapse. In this retrospective study including 305 paediatric ALL patients undergoing maintenance therapy, we systematically investigated the individual and combined effects of genetic variants of folate pathway enzymes, as well as of polymorphisms in PACSIN2 and ITPA, on drug-induced toxicities by applying a multi-analytical approach including logistic regression (LR), classification and regression tree (CART) and generalized multifactor dimensionality reduction (GMDR)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27425780/genetic-expressions-of-thrombophilic-factors-in-patients-with-sheehan-s-syndrome
#18
Fahri Bayram, Halit Diri, Elif Funda Sener, Munis Dundar, Yasin Simsek
PURPOSE: The aim of this study was to evaluate the roles of factors associated with coagulation in the etiology and pathogenesis of Sheehan's syndrome (SS) which is a frequent cause of hypopituitarism in underdeveloped and developing regions of the world. METHODS: Mean prothrombin time (PT), activated partial thromboplastin time (APTT) and expression levels of genes, which included methylenetetrahydrofolate reductase (MTHFR), angiotensin I converting enzyme (ACE), coagulation factor V (FV), FVII, FVIII and FIX in 44 patients with SS were compared with 43 healthy subjects...
November 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27322299/interactions-of-methylenetetrahydrofolate-reductase-c677t-polymorphism-with-environmental-factors-on-hypertension-susceptibility
#19
Shujun Fan, Boyi Yang, Xueyuan Zhi, Yanxun Wang, Jian Wei, Quanmei Zheng, Guifan Sun
Hypertension is considered to be the result of genes, environment, and their interactions. Among them age, sex, tobacco use, alcohol consumption, and being overweight/obesity are well documented environmental determinants, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is nominated as a potential genetic candidate. However, the synergistic effect of the MTHFR C677T polymorphism with these environmental factors on the risk of hypertension has received little attention. The aim of this study was to explore the associations of the MTHFR C677T polymorphism, environmental factors, and their interactions with hypertension predisposition in a Northern Chinese Han population...
2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27321094/is-there-an-association-between-the-development-of-metabolic-syndrome-in-pcos-patients-and-the-c677t-mthfr-gene-polymorphism
#20
Katarzyna Ożegowska, Anna Bogacz, Joanna Bartkowiak-Wieczorek, Agnieszka Seremak-Mrozikiewicz, Leszek Pawelczyk
INTRODUCTION: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. PCOS is characterized by anovulation, polycystic ovaries, hyperandrogenism leading to infertility, dermatological and psychological problems, as well as the risk of developing Metabolic Syndrome (MetS) and cardiovascular disease (CVD). The exact cause of PCOS remains unclear. Various biochemical and genetic markers have been implicated in predisposition to PCOS, but no single variant has been associated with the syndrome...
2016: Ginekologia Polska
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