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MTHFR GENE

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https://www.readbyqxmd.com/read/29159983/frequency-of-folate-related-polymorphisms-varies-by-skin-pigmentation
#1
Patrice Jones, Mark Lucock, Martin Veysey, Nina Jablonski, George Chaplin, Emma Beckett
OBJECTIVES: Folate-mediated 1-carbon transfer processes are vital in human health but are susceptible to independent and interactive influences of genetic variance and environmental exposures. Evidence suggests folate levels may be impacted by genetic variance and environmental UVR, with the effect of UVR levels influenced in part by degree of skin pigmentation. Folate-related genes are also influenced by UVR levels; however, the potential relationship between key folate-related genes and skin pigmentation has not yet been explored...
November 21, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/29125573/tailoring-nutritional-advice-for-mexicans-based-on-prevalence-profiles-of-diet-related-adaptive-gene-polymorphisms
#2
Claudia Ojeda-Granados, Arturo Panduro, Karina Gonzalez-Aldaco, Maricruz Sepulveda-Villegas, Ingrid Rivera-Iñiguez, Sonia Roman
Diet-related adaptive gene (DRAG) polymorphisms identified in specific populations are associated with chronic disorders in carriers of the adaptive alleles due to changes in dietary and lifestyle patterns in recent times. Mexico's population is comprised of Amerindians (AM) and Mestizos who have variable AM, European (EUR) and African genetic ancestry and an increased risk of nutrition-related chronic diseases. Nutritional advice based on the Mexican genome and the traditional food culture is needed to develop preventive and therapeutic strategies...
November 10, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29116059/genetic-predictors-associated-with-diabetic-retinopathy-in-diabetic-foot-patients-a-preliminary-study
#3
Beata Mrozikiewicz-Rakowska, Magdalena Łukawska, Piotr Nehring, Konrad Szymański, Agnieszka Sobczyk-Kopcioł, Monika Krzyżewska, Paweł Maroszek, Rafał Płoski, Leszek Czupryniak
INTRODUCTION    Early detection of diabetic retinopathy (DR) is key for preventing irreversible blindness. Recent research has identified some of the genetic factors involved in the pathology of DR, although their precise underlying mechanisms remain unclear. OBJECTIVES    This pilot study aimed to determine genetic predictors of DR among patients with type 2 diabetes mellitus (T2DM) and diabetic foot (DF) based on pathogenetic pathways. PATIENTS AND METHODS    The study was conducted on 114 patients with T2DM and DF (64 with DR, 50 without DR) treated in the Medical University of Warsaw...
November 7, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29115286/genetic-predictors-associated-with-diabetic-retinopathy-in-diabetic-foot-patients
#4
Beata Mrozikiewicz-Rakowska, Magdalena Łukawska, Piotr Nehring, Konrad Szymański, Agnieszka Sobczyk-Kopcioł, Monika Krzyżewska, Paweł Maroszek, Rafał Płoski, Leszek Czupryniak
INTRODUCTION: Early detection of diabetic retinopathy (DR) is key for preventing irreversible blindness. Recent research has identified some of the genetic factors involved in the pathology of DR, although their precise underlying mechanisms remain unclear. OBJECTIVES: This pilot study aimed to determine genetic predictors of DR among patients with type 2 diabetes mellitus (T2DM) and diabetic foot (DF) based on pathogenetic pathways. PATIENTS AND METHODS: The study was conducted on 114 patients with T2DM and DF (64 with DR, 50 without DR) treated in the Medical University of Warsaw...
November 7, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#5
Kyu Ri Hwang, Young Min Choi, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun, Sang Ho Yoon, Min A Hong
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL)...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29097250/mthfr-c677t-and-a1298c-polymorphisms-may-contribute-to-the-risk-of-parkinson-s-disease-a-meta-analysis-of-19-studies
#6
Lijun Liu, Liang Zhang, Lei Guo, Qing Yu, Hong Li, Jijun Teng, Anmu Xie
The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been reported to be a candidate gene for susceptibility to Parkinson's disease (PD), but results of different studies are conflicting. Here, we conducted a meta-analysis of published case-control studies to evaluate the association between MTHFR C677T and A1298C gene polymorphisms with the risk of PD. Electronic search through PubMed, EmBase, ScienceDirect and Cochrane Library was conducted to identify all relevant studies. A total of 19 studies with 2746 cases and 8967 controls were included...
October 31, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#7
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#8
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29084233/genetically-defined-elevated-homocysteine-levels-do-not-result-in-widespread-changes-of-dna-methylation-in-leukocytes
#9
Pooja R Mandaviya, Roby Joehanes, Dylan Aïssi, Brigitte Kühnel, Riccardo E Marioni, Vinh Truong, Lisette Stolk, Marian Beekman, Marc Jan Bonder, Lude Franke, Christian Gieger, Tianxiao Huan, M Arfan Ikram, Sonja Kunze, Liming Liang, Jan Lindemans, Chunyu Liu, Allan F McRae, Michael M Mendelson, Martina Müller-Nurasyid, Annette Peters, P Eline Slagboom, John M Starr, David-Alexandre Trégouët, André G Uitterlinden, Marleen M J van Greevenbroek, Diana van Heemst, Maarten van Iterson, Philip S Wells, Chen Yao, Ian J Deary, France Gagnon, Bastiaan T Heijmans, Daniel Levy, Pierre-Emmanuel Morange, Melanie Waldenberger, Sandra G Heil, Joyce B J van Meurs
BACKGROUND: DNA methylation is affected by the activities of the key enzymes and intermediate metabolites of the one-carbon pathway, one of which involves homocysteine. We investigated the effect of the well-known genetic variant associated with mildly elevated homocysteine: MTHFR 677C>T independently and in combination with other homocysteine-associated variants, on genome-wide leukocyte DNA-methylation. METHODS: Methylation levels were assessed using Illumina 450k arrays on 9,894 individuals of European ancestry from 12 cohort studies...
2017: PloS One
https://www.readbyqxmd.com/read/29075332/hypermethylation-in-the-promoter-of-the-mthfr-gene-is-associated-with-diabetic-complications-and-biochemical-indicators
#10
Mayara Karla Dos Santos Nunes, Alexandre Sérgio Silva, Isabella Wanderley de Queiroga Evangelista, João Modesto Filho, Cecília Neta Alves Pegado Gomes, Rayner Anderson Ferreira do Nascimento, Rafaella Cristhine Pordeus Luna, Maria José de Carvalho Costa, Naila Francis Paulo de Oliveira, Darlene Camati Persuhn
BACKGROUND: DNA methylation is an epigenetic mechanism for regulating the transcription of many genes and has been linked to the development of various diseases. A promising gene to investigate is methylenetetrahydrofolate reductase (MTHFR), since the enzyme methylenetetrahydrofolate reductase (MTHFR) promotes methyl radical synthesis in the homocysteine cycle and can provide methyl groups for DNA methylation. In addition, several studies have correlated gene polymorphisms of this enzyme with a greater risk of diabetes, but little is known regarding the relationship between epigenetic changes in this gene and diabetes and its complications...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29062354/vitamin-b6-and-homocysteine-levels-in-carbamazepine-treated-epilepsy-of-khyber-pakhtunkhwa
#11
Shakirullah Shakir, Niaz Ali, Zia Udin, Haleema Nazish, Muhammad Nabi
OBJECTIVES: The study focused on the plasma levels of vitamin B6 and homocysteine in different genotypes of MTHFR (C677T, A1298C) and GABRG2 (C588T, C315T) genes in carbamazepine resistant epilepsy in the population of Khyber Pakhtunkhwa. METHODOLOGY: Patients who were possible candidates for carbamazepine therapy were followed for six months for their seizure control. Plasma levels of vitamin B6 and homocysteine were determined using immunoassay based techniques at baseline and after six months...
June 2017: African Health Sciences
https://www.readbyqxmd.com/read/29062171/distribution-of-mthfr-c677t-gene-polymorphism-in-healthy-north-indian-population-and-an-updated-meta-analysis
#12
Upendra Yadav, Pradeep Kumar, Sanjay Gupta, Vandana Rai
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate pathway. Several polymorphisms were reported in MTHFR gene but C677T polymorphism is most studied and it has been reported to be risk factor for several diseases/disorders. The present study was designed to explore the frequency of MTHFR C677T polymorphism in North Indian healthy population. In addition to this a meta-analysis of published articles was also performed to estimate the global prevalence of MTHFR C677T polymorphism. A total of 1000 unrelated healthy subjects were selected for MTHFR C677T polymorphism analysis...
October 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29042595/a-plasma-proteomics-method-reveals-links-between-ischemic-stroke-and-mthfr-c677t-genotype
#13
Zhenchang Zhang, Qi Yan, Jia Guo, Xueping Wang, Wei Yuan, Lei Wang, Lixia Chen, Gang Su, Manxia Wang
Methylene Tetrahydrofolate Reductase (MTHFR) catalyzes the conversion of methylene tetrahydrofolate to methylte trahydrofolate. The 677th nucleotide of the MTHFR gene is often regarded as a risk factor of cardiovascular disease. Previous studies demonstrated an elevated risk of ischemic stroke with the MTHFR677TT genotype. In this study, we employed a plasma proteomics method to investigate the connection between the polymorphism of the target nucleotide and stroke. In total, 28 protein spots were differentially expressed between the two groups, and of which, 25 protein spots were up-regulated and 3 were down-regulated...
October 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29039833/-genetic-determinants-of-hypertension-in-two-national-cohorts-of-mountain-shoria
#14
О L Barbarash, М I Voevoda, G V Artamonova, Т А Mulerova, Е N Voropaeva, V N Maksimov, М Yu Ogarkov
AIM: To estimate the prevalence of the genotypes of the candidate genes ACE (I/D, rs4646994), ADRB1 (Ser49Gly, A/G, rs1801252) ADRA2B (I/D), MTHFR (C677T, Ala222Val, rs1801133), and eNOS (4b/4a) and their association with hypertension in two ethnic groups of Mountain Shoria. SUBJECTS AND METHODS: A clinical and epidemiological study was conducted in a population compactly living in the hard-to-reach areas of Mountain Shoria (the settlements of Orton, Ust-Kabyrza, and Sheregesh of the Kemerovo Region)...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29039494/internal-driving-factors-leading-to-extrahepatic-manifestation-of-the-hepatitis%C3%A2-c-virus-infection
#15
Zhou-Yi Wu, Jian-Rui Li, Meng-Hao Huang, Jun-Jun Cheng, Hu Li, Jin-Hua Chen, Xiao-Qin Lv, Zong-Gen Peng, Jian-Dong Jiang
The hepatitis C virus (HCV) infection is associated with various extrahepatic manifestations, which are correlated with poor outcomes, and thus increase the morbidity and mortality of chronic hepatitis C (CHC). Therefore, understanding the internal linkages between systemic manifestations and HCV infection is helpful for treatment of CHC. Yet, the mechanism by which the virus evokes the systemic diseases remains to be elucidated. In the present study, using gene set enrichment analysis (GSEA) and signaling pathway impact analysis (SPIA), a comprehensive analysis of microarray data of mRNAs was conducted in HCV-infected and -uninfected Huh7...
October 5, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#16
Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29026722/mthfr-3-untranslated-region-polymorphisms-contribute-to-recurrent-pregnancy-loss-risk-and-alterations-in-peripheral-natural-killer-cell-proportions
#17
Eun Sun Kim, Jung Oh Kim, Hui Jeong An, Jung Hyun Sakong, Hyun Ah Lee, Ji Hyang Kim, Eun Hee Ahn, Young Ran Kim, Woo Sik Lee, Nam Keun Kim
OBJECTIVE: To identify the associations between polymorphisms of the 3'-untranslated region (UTR) of methylenetetrahydrofolate reductase (MTHFR) gene, which codes for an important regulatory enzyme primarily involved in folate metabolism, and idiopathic recurrent pregnancy loss (RPL) in Korean women. METHODS: The study population comprised 369 RPL patients and 228 controls. MTHFR 2572C>A, 4869C>G, 5488C>T, and 6685T>C 3'-UTR polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis or by TaqMan allelic discrimination assays...
September 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/29018782/comparison-of-blueberry-vaccinium-spp-and-vitamin-c-via-antioxidative-and-epigenetic-effects-in-human
#18
Minju Kim, Hyunkyung Na, Hiroshi Kasai, Kazuaki Kawai, Yun-Shan Li, Mihi Yang
BACKGROUND: Chemopreventive effects and the underlying mechanisms of blueberry (Vaccinium spp.) are not clearly understood in human. We hypothesized blueberry would work via antioxidative and epigenetic modulation, which is similar to vitamin C. METHODS: We performed a pilot and non-inferiority study in healthy young women (n = 12), who consumed vitamin C (1 g/d) or 240 mL of blueberry juice (total polyphenols 300 mg and proanthocyanidin 76 mg/d) for 2 weeks. We analyzed 8-hydroxydeoxyguanosine (8-OHdG) and malondialdehyde (MDA) levels in their urine, and global and specific DNA methylation at the NAD(P)H quinone oxidoreductase 1 (NQO1), methylenetetrahydrofolate reductase (MTHFR), or DNA methyltransferase 1 (DNMT1) genes in their blood...
September 2017: Journal of Cancer Prevention
https://www.readbyqxmd.com/read/29017962/ace-i-d-sequence-variants-but-not-mthfr-c677t-is-strongly-linked-to-malignant-glioma-risk-and-its-variant-dd-genotype-may-act-as-a-promising-predictive-biomarker-for-overall-survival-for-glioma-patients
#19
Arshad A Pandith, Iqbal Qasim, Wani Zahoor, Parveen Shah, Abdul R Bhat
OBJECTIVE: ACE I/D and MTHFR C677T gene polymorphisms can be seen as candidate genes for glioma on the basis of their biological functions and their involvement in different cancers. The aim of this study was to analyze potential association and overall survival between MTHFR C677T and ACE I/D polymorphism in glioma patients in our population. MATERIALS AND METHODS: We tested genotype distribution of 112 glioma patients against 141 cancer-free controls from the same region...
October 7, 2017: Gene
https://www.readbyqxmd.com/read/28994615/mtrr-a66g-rfc1-g80a-and-mthfr-c677t-and-a1298c-polymorphisms-and-disease-activity-in-mexicans-with-rheumatoid-arthritis-treated-with-methotrexate
#20
Mirna Gisel González-Mercado, Fernando Rivas, M Patricia Gallegos-Arreola, M Cristina Morán-Moguel, Mario Salazar-Páramo, Laura González-López, J Iván Gámez-Nava, J Francisco Muñoz-Valle, Ricardo Medina-Coss Y León, Anahí González-Mercado, Mario A Aceves, Nory O Dávalos, Agustín Macías-Chumacera, Ingrid P Dávalos
AIM: To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). MATERIALS AND METHODS: Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28)...
October 10, 2017: Genetic Testing and Molecular Biomarkers
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