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https://www.readbyqxmd.com/read/28915669/folate-metabolism-genetic-polymorphisms-and-meningioma-and-glioma-susceptibility-in-adults
#1
Dongming Chen, Jun Dong, Ying Huang, Feng Gao, Xiaopeng Yang, Xianglun Gong, Xiaochen Lv, Chenghao Chu, Yonggang Wu, Yong Zheng
Polymorphic variants of genes involved in folate metabolism are implicated in the susceptibility to meningioma and glioma, but the results from published articles are controversial and inconclusive. Therefore, we performed this meta-analysis including all studies available to evaluate the relationship between folate metabolism genetic polymorphisms and the susceptibility to meningioma and glioma in adults. We searched the literature in PubMed, EMBASE and Cochrane Central Library for relevant articles published up to August 2016...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28890888/association-between-ace-rs4646994-fabp2-rs1799883-mthfr-rs1801133-fto-rs9939609-genes-polymorphism-and-type-2-diabetes-with-dyslipidemia
#2
Syed Tasleem Raza, Shania Abbas, Zeba Siddiqi, Farzana Mahdi
Diabetic dyslipidemia is one of the leading causes of coronary artery disease (CAD) death. Genetic and environmental factors play an important role in the development of type 2 diabetes mellitus (T2DM) and dyslipidemia. The present study was aimed to investigate the association of ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133) and FTO (rs9939609) genes polymorphism in T2DM with dyslipidemia. Totally, 559 subjects including 221 T2DM cases with dyslipidemia, 158 T2DM without dyslipidemia and 180 controls were enrolled...
2017: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#3
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
September 9, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28887233/methotrexate-pharmacogenetics-in-uruguayan-adults-with-hematological-malignant-diseases
#4
Andrea Giletti, Marcelo Vital, Mariana Lorenzo, Patricia Cardozo, Gabriel Borelli, Raúl Gabus, Lem Martínez, Lilian Díaz, Rodrigo Assar, María Noel Rodriguez, Patricia Esperón
BACKGROUND: Individual variability is among the causes of toxicity and interruption of treatment in acute lymphoblastic leukemia (ALL) and severe non-Hodgkin lymphoma (NHL) patients under protocols including Methotrexate (MTX): 2,4-diamino-N10-methyl propyl-glutamic acid. METHODS: 41 Uruguayan patients were recruited. Gene polymorphisms involved in MTX pathway were analyzed and their association with treatment toxicities and outcome was evaluated. RESULTS: Genotype distribution and allele frequency were determined for SLC19A1 G80A, MTHFR C677T and A1298C, TYMS 28bp copy number variation, SLCO1B1 T521C, DHFR C-1610G/T, DHFR C-680A, DHFR A-317G and DHFR 19bp indel...
September 5, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28876333/folate-vitamin-b12-homocysteine-and-polymorphisms-in-folate-metabolizing-genes-in-children-with-congenital-heart-disease-and-their-mothers
#5
K E Elizabeth, S L Praveen, N R Preethi, V T Jissa, M R Pillai
BACKGROUND/OBJECTIVES: The objective of the study was to assess the role of variations in serum folate, vitamin B12, homocysteine and the presence of genetic polymorphisms as risk factors for congenital heart disease (CHD) in children. SUBJECTS/METHODS: A total of 32 children with CHD, and their mothers and 32 normal children and their mothers formed the study and control groups, respectively. Serum folate, vitamin B12 and homocysteine as well as genetic polymorphisms MTHFR C677→︀T, MTHFR A1298→︀C, MTR A2756→︀G and MTRR A66→︀G were assessed...
September 6, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28871711/analysis-of-the-rs13306560-functional-variant-in-the-promoter-region-of-the-mthfr-gene-in-sporadic-parkinson%C3%A2-s-disease
#6
Silvia García, Luis Javier Cano-Martínez, Ramón Mauricio Coral-Vázquez, Agustín Coronel-Perez, Benjamín Gómez-Díaz, Christian Gabriel Toledo-Lozano, Martha Patricia Gallegos-Arreola, Luis Dávila-Maldonado, Dulce Adeí Jimenez-Hernández, Sofía Lizeth Alcaraz-Estrada, Luz Berenice López-Hernández
OBJECTIVE: Among susceptibility genes for Sporadic Parkinson´s Disease (SPD), the MTHFR gene has been suggested as candidate. The A allele of the functional variant rs13306560 in its promoter region has been liked to decreased transactivation capacity. Therefore, we sought to determine a possible association of the rs13306560 and SPD. METHODS: In total, 237 individuals were genotyped, 113 patients with SPD diagnosed according to the Queen Square Brain Bank criteria and 124 neurologically healthy controls...
August 5, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28871186/analysis-of-population-specific-pharmacogenomic-variants-using-next-generation-sequencing-data
#7
Eunyong Ahn, Taesung Park
Functional rare variants in drug-related genes are believed to be highly differentiated between ethnic- or racial populations. However, knowledge of population differentiation (PD) of rare single-nucleotide variants (SNVs), remains widely lacking, with the highest fixation indices, (Fst values), from both rare and common variants annotated to specific genes, having only been marginally used to understand PD at the gene level. In this study, we suggest a new, gene-based PD method, PD of Rare and Common variants (PDRC), for analyzing rare variants, as inspired by Generalized Cochran-Mantel-Haenszel (GCMH) statistics, to identify highly population-differentiated drug response-related genes ("pharmacogenes")...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28867034/-neonatal-arterial-ischemic-stroke-which-thrombotic-biological-risk-factors-to-investigate-and-which-practical-consequences
#8
T Perez, J B Valentin, E Saliba, Y Gruel
All biological risk factors that have been previously identified to increase the risk of thrombosis in adults, have also been studied in neonates with arterial Ischemic Stroke (NAIS), but most studies were retrospective and included relatively low numbers of affected children. We therefore could not suggest recommendations with a strong level of evidence and only expert proposals potentially useful for clinical practice will be presented in this text. Despite these limitations, the extensive analysis of published data supported that factor V Leiden (FVL) and increased levels of Lp(a) could be significant risk factors for NAIS...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28862981/need-for-pharmacogenetic-studies-on-the-prevalence-of-mthfr-mutations-in-puerto-ricans-and-hispanics
#9
Raúl H Morales-Borges
Methylenetetrahydrofolate reductase (MTHFR) mutations have been linked to many diseases. Evidence has been provided to prove that we need to perform pharmacogenetic studies regarding the prevalence of MTHFR mutations and diseases, risks, and the impact on folate requirement in general, but little has been published about Puerto Ricans. A multi center cross-sectional retrospective review study or a prospective pharmacogenetic study of valid genotypes and phenotypes of MTHFR mutations within the different populations of Puerto Ricans and Hispanics are recommended, because differences within them and within the general population are expected...
September 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28862175/methylenetetrahydrofolate-reductase-a1298c-genetic-variant-risk-of-schizophrenia-a-meta-analysis
#10
REVIEW
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil K Yadav, Sanjay Gupta
BACKGROUND & OBJECTIVES: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate metabolism, whose role in schizophrenia is debatable. Numerous case-control studies have investigated the association of MTHFR A1298C polymorphism with schizophrenia, but results are controversial. The aim of the present study was to find the association between MTHFR A1298C gene polymorphism and schizophrenia. METHODS: PubMed, Google Scholar, Science Direct and Springer link databases were searched for case-control association studies in which MTHFR A1298C polymorphism was investigated as a risk factor for schizophrenia...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28858863/association-of-plasminogen-activator-inhibitor-1-gene-polymorphisms-and-methylene-tetrahydrofolate-reductase-polymorphisms-with-spontaneous-miscarriages
#11
Petra Bubalo, Iva Buterin, Zrinko Šalek, Vesna Ðogić, Silva Zupančić-Šalek
AIM: The objective of this study was to investigate a possible correlation between the plasminogen activator inhibitor-1 (PAI-1) and methylene tetrahydrofolate reductase (MTHFR) polymorphisms and unexplained spontaneous miscarriages (SM). MATERIALS AND METHODS: PAI-1 polymorphisms were evaluated in 150 women with pregnancy in their history. One hundred women with a history of SM formed the study group and 50 women with normal pregnancies served as the control group...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28847029/prevalence-of-the-mthfr-c677t-mutation-in-fertile-and-infertile-women
#12
Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi
Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013...
August 28, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28842818/association-between-the-mthfr-c677t-isoform-and-structure-of-sperm-dna
#13
Dominique Cornet, Marc Cohen, Arthur Clement, Edouard Amar, Laetitia Fournols, Patrice Clement, Paul Neveux, Yves Ménézo
PURPOSE: The aim of this study is to evaluate whether the MTHFR contribution to male decreased fertility can be attributable to anomalies in sperm nucleus DNA structure in relation to defective methylation. METHODS: The presence of MTHFR C677T, contributing at most for male infertility, was determined from a venous blood sample, using real-time polymerase chain reaction (PCR). Sperm DNA fragmentation (SDF) and sperm nucleus decondensation index (SDI) measurements were performed using acridine orange and flow cytometry...
August 25, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28833962/biochemical-and-genetic-predictors-and-correlates-of-response-to-lamotrigine-and-folic-acid-in-bipolar-depression-analysis-of-the-cequel-clinical-trial
#14
E M Tunbridge, M J Attenburrow, A Gardiner, J M Rendell, C Hinds, G M Goodwin, P J Harrison, J R Geddes
OBJECTIVES: CEQUEL (Comparative Evaluation of QUEtiapine plus Lamotrigine combination versus quetiapine monotherapy [and folic acid versus placebo] in bipolar depression) was a double-blind, randomized, placebo-controlled, parallel group, 2×2 factorial trial that examined the effect of adding lamotrigine and/or folic acid (FA) to quetiapine in bipolar depression. Lamotrigine improved depression, but its effectiveness was reduced by FA. We investigated the baseline predictors and correlates of clinical response, and the possible basis of the interaction...
August 20, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28820331/polo-like-kinase-1-plk1-dependent-phosphorylation-of-methylenetetrahydrofolate-reductase-mthfr-regulates-replication-via-histone-methylation
#15
Xueyan Li, Shanshan Nai, Yuehe Ding, Qizhi Geng, Bingtao Zhu, Kai Yu, Wei-Guo Zhu, Meng-Qiu Dong, Xiao-Dong Su, Xingzhi Xu, Jing Li
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the folate cycle and its genetic variations have been associated with various human diseases. Previously we identified that MTHFR is phosphorylated by cyclin-dependent kinase 1 (CDK1) at T34 and MTHFR underlies heterochromatin maintenance marked by H3K9me3 levels. Herein we demonstrate that pT34 creates a binding motif that docks MTHFR to the polo-binding domain (PBD) of polo-like kinase 1 (PLK1), a fundamental kinase that orchestrates many cell cycle events...
August 18, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28819944/contribution-of-inherited-thrombophilia-to-recurrent-miscarriage-in-the-polish-population
#16
Hubert Wolski, Magdalena Barlik, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska, Marcin Ożarowski, Zdzisław Łowicki, Agnieszka Seremak-Mrozikiewicz
INTRODUCTION: The aim of the study was to evaluate the contribution of genetic variants determining inherited thrombophilia to recurrent miscarriage (RM) in the Polish population. The following polymorphisms were analyzed: 1691G>A, 1328T>C of coagulation factor V, 20210G>A of coagulation factor II, R353Q (11496G>A) of coagulation factor VII, 667C>T, 1298A>C, 1793G>A of MTHFR. MATERIAL AND METHODS: A total of 359 women with ≥ 2 subsequent recurrent miscarriages (303 < 13 weeks of gestation (w...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28814189/association-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-with-recurrent-pregnancy-loss-in-syrian-women
#17
Walid Al-Achkar, Abdulsamad Wafa, Samer Ammar, Faten Moassass, Rami A Jarjour
C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism...
September 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28811683/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-risk-for-male-infertility-in-asian-population
#18
Vandana Rai, Pradeep Kumar
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28776552/homocysteine-a-potential-common-route-for-cardiovascular-risk-and-dna-methylation-in-psoriasis
#19
REVIEW
Wen-Ming Wang, Hong-Zhong Jin
OBJECTIVE: Homocysteine is a sulfur-containing amino acid with potential clinical significance. Abnormal homocysteine levels have been found in patients with psoriasis. This review summarizes the possible correlations among homocysteine, cardiovascular risk, and DNA methylation in psoriasis. DATA SOURCES: We retrieved the articles published in English from the PubMed database up to January 2017, using the keywords including "psoriasis," "homocysteine," "cardiovascular risk," "DNA methylation," "methylenetetrahydrofolate reductase," "MTHFR," and "MTHFR C677T...
August 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28775131/blood-lead-levels-iron-metabolism-gene-polymorphisms-and-homocysteine-a-gene-environment-interaction-study
#20
Kyoung-Nam Kim, Mee-Ri Lee, Youn-Hee Lim, Yun-Chul Hong
OBJECTIVES: Homocysteine has been causally associated with various adverse health outcomes. Evidence supporting the relationship between lead and homocysteine levels has been accumulating, but most prior studies have not focused on the interaction with genetic polymorphisms. METHODS: From a community-based prospective cohort, we analysed 386 participants (aged 41-71 years) with information regarding blood lead and plasma homocysteine levels. Blood lead levels were measured between 2001 and 2003, and plasma homocysteine levels were measured in 2007...
August 3, 2017: Occupational and Environmental Medicine
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