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MTHFR GENE

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https://www.readbyqxmd.com/read/28544525/lack-of-association-between-mthfr-a1298c-polymorphism-and-outcome-of-methotrexate-treatment-in-rheumatoid-arthritis-patients-evidence-from-a-systematic-review-and-meta-analysis
#1
Hongqiong Fan, Yanhui Li, Li Zhang, Yuying Li, Wei Li
OBJECTIVES: The aim of this study was to evaluate the association of methylene tetrahydrofolate reductase (MTHFR) gene polymorphism A1298C and methotrexate (MTX) outcome in rheumatoid arthritis (RA) patients. METHODS: We conducted a meta-analysis of the relevant published literature through to May 2016. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using fixed- and random-effect models. RESULTS: A total of 1325 cases (10 studies) of MTX efficacy and 2777 cases (18 studies) of MTX toxicity in RA patients were analyzed...
May 25, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28544455/suboptimal-maternal-and-cord-plasma-pyridoxal-5-phosphate-concentrations-are-uncommon-in-a-cohort-of-canadian-pregnant-women-and-newborn-infants
#2
Lesley Plumptre, Shannon P Masih, Kyoung-Jin Sohn, Denise Kim, Carly E Visentin, Anna Ly, Howard Berger, Ruth Croxford, Deborah L O'Connor, Young-In Kim
Vitamin B6 is important in fetal development, but little is known of the vitamin B6 status of pregnant women and newborns in North America and potential modifying factors. This prospective study determined maternal and cord plasma concentrations of pyridoxal 5' phosphate (PLP; an indicator of vitamin B6 status) in a convenience sample of 368 Canadian pregnant women and their newborns. The association of maternal intake of vitamin B6 and fetal genetic variants with cord plasma PLP and homocysteine concentrations was also examined...
May 24, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/28543752/mthfr-gene-c677t-and-a1298c-variants-are-associated-with-fmf-risk-in-a-turkish-cohort
#3
Ayse Feyda Nursal, Süheyla Kaya, Ozlem Sezer, Nevin Karakus, Serbulent Yigit
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. MATERIAL-METHODS: This case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods...
May 22, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28540283/associations-of-mthfr-c677t-polymorphism-with-insulin-resistance-results-of-nurse-study-nursing-unacquainted-related-stress-etiologies
#4
Motahareh Kheradmand, Zhila Maghbooli, Sedigheh Salemi, Mahnaz Sanjari
BACKGROUND: The insulin resistance syndrome is one of the major contributors of metabolic syndrome, diabetes Type 2 and atherosclerotic cardiovascular disease. A common mutation (677C to T; Ala to Val) in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased specific MTHFR activity and elevation of the homocysteine. The aim of this study is investigation of association between MTHFR 677C > T polymorphism with insulin resistance by using HOMA (Homeostasis Model Assessment) index in nurses who are potentially prone to develop insulin resistance because of unfavorable effects of shift work...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28534241/a-genetic-variant-in-fign-gene-reduces-the-risk-of-congenital-heart-disease-in-han-chinese-populations
#5
Dan Wang, Maoping Chu, Feng Wang, Aihua Zhou, Miaohua Ruan, Yiming Chen
Congenital heart disease (CHD) is one of the most common birth anomalies worldwide. Folate deficiency is an independent risk factor for CHD. Genome-wide association studies (GWAS) revealed that human folate level could be significantly influenced by fidgetin (FIGN), methylenetetrahydrofolate reductase (MTHFR), prickle homolog 2 (PRICKLE2), synaptotagmin 9 (SYT9), gamma-aminobutyric acid B receptor 2 (GABBR2), and alkaline phosphatase (ALPL) genes. The association between the above-mentioned six variants and CHD was examined in the two independent case-control studies in a total of 868 CHD patients and 931 healthy controls...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28514598/the-communal-relation-of-mthfr-mtr-ace-gene-polymorphisms-and-hyperhomocysteinemia-as-conceivable-risk-of-coronary-artery-disease
#6
Rizwan Masud, Haider Zaigham Baqai
Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases n = 254, controls n = 250, respectively). Tetra primer allele refractory mutation system (ARMS) PCR was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905)...
May 17, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28507283/mir-149-compromises-the-reactions-of-liver-cells-to-fatty-acid-via-its-polymorphism-and-increases-non-alcoholic-fatty-liver-disease-nafld-risk-by-targeting-methylene-tetrahydrofolate-reductase-mthfr
#7
Xianchao An, Zonglin Yang, Zhengzhuang An
BACKGROUND Non-alcoholic fatty liver disease (NAFLD) is a worldwide health problem, and microRNA (miRNA) has been reported to be involved in NAFLD. The objective of our study was to explore the effect of polymorphism in miR-149 on the pathogenesis of NAFLD. MATERIAL AND METHODS Real-time PCR was performed to explore the effect of long-chain fatty acid (FFA) on the level of miR-149 and methylene tetrahydrofolate reductase (MTHFR). Then in-silicon analysis and luciferase assay were investigated to verify MTHFR was the target gene of miR-149...
May 16, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28500484/association-of-folate-metabolism-gene-polymorphisms-and-haplotype-combination-with-pulmonary-embolism-risk-in-chinese-han-population
#8
Xin Li, Ling Weng, Baihe Han, Yingnan Dai, Li Cha, Shujun Yan, Enze Jin
In this study, we aimed to investigate the association of four single nucleotide polymorphisms (SNPs) (MTHFR 677 C > T, MTHFR 1298 A > C, MTR 2756 A > G and MTRR 66 A > G), gene-gene interaction and haplotype combination with pulmonary embolism (PE) risk based on Chinese Han population. Logistic regression was performed to investigate association between four SNPs within folate metabolism gene and PE risk, and GMDR model was used to investigate the additional gene-gene interactions among the four SNPs...
May 12, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28493936/serum-folate-concentration-and-the-incidence-of-lung-cancer
#9
Katarzyna Durda, Krzysztof Kąklewski, Satish Gupta, Michał Szydłowski, Piotr Baszuk, Katarzyna Jaworska-Bieniek, Grzegorz Sukiennicki, Katarzyna Kaczmarek, Piotr Waloszczyk, Steven Narod, Jan Lubiński, Anna Jakubowska
BACKGROUND: Lung cancer is a leading cause of cancer-related mortality globally. Folate helps to maintain DNA integrity and to regulate gene expression. Serum folate levels may affect the risk of several cancers, including lung cancer. In this study we evaluated the association between serum folate concentration and variations in genes involved in folate metabolism with lung cancer incidence in Poland. METHODS: The study included 366 lung cancer patients and 366 control subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28481466/investigation-of-mthfr-gene-c677t-polymorphism-in-cardiac%C3%A2-syndrome-x-patients
#10
Cemre Kandaz, Burak Önal, Deniz Özen, Bülent Demir, A Gökhan Akkan, Sibel Özyazgan
BACKGROUND: Definition of Cardiac Syndrome X (CSX) refers to groups of patients with positive exercise stress test and normal epicardial coronary arteries on coronary angiography accompanied by chest pain. Although the etiology of CSX is not completely understood, there is a common consensus that its pathophysiology may be associated with endothelial dysfunction resulting in impaired coronary flow. Some polymorphisms observed on the MTHFR gene cause inactivation of the MTHFR enzyme, leading to hyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascular and cerebrovascular diseases...
May 8, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28480858/-analysis-of-one-carbon-metabolism-genes-and-epidermal-differentiation-complex-in-patients-with-ichthyosis-vulgaris
#11
O Fedota, L Roshchenyuk, I Sadovnychenko, I Merenkova, I Gontar, V Vorontsov
The aim of the study was to evaluate the effects of allelic polymorphism of the FLG and MTHFR genes and their associations in gynecological patients with ichthyosis vulgaris. Gynecological disorders are observed in presence of some forms of ichtyosis. From the prospective of improving nation's healthcare, the greatest attention is drawn to reproductive disorders. Based on this, the research was also tasked with studying of the genetic nature of gynecological diseases, as well as the influence of geographical latitude on the frequencies of mutagenic alleles of the FLG gene and heterogeneous carriers of these mutations...
March 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28463405/studying-the-association-between-methylenetetrahydrofolate-reductase-mthfr-677-gene-polymorphism-cardiovascular-risk-and-lichen-planus
#12
Laila Rashed, Rania Abdel Hay, Marwa AlKaffas, Shereen Ali, Dina Kadry, Sara Abdallah
BACKGROUND: There is a reported relation between hyperhomocysteinemia and lichen planus (LP). An increase in homocysteine (Hcy) and the risk of cardiovascular disease (CVD) in patients with methylenetetrahydrofolate reductase (MTHFR) mutation has been described. OBJECTIVE: To detect MTHFR (C677T) gene polymorphism, and to find its association with CVD risk, Hcy and folic acid levels in patients with LP. METHODS: This hospital-based case-control study included 110 patients with LP: 70 with cutaneous LP (CLP) and 40 with oral LP (OLP)...
April 30, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28445388/maternal-methyl-donor-supplementation-during-gestation-counteracts-the-bisphenol-a-induced-impairment-of-intestinal-morphology-disaccharidase-activity-and-nutrient-transporters-gene-expression-in-newborn-and-weaning-pigs
#13
Hong Liu, Jun Wang, Daolin Mou, Lianqiang Che, Zhengfeng Fang, Bin Feng, Yan Lin, Shengyu Xu, Jian Li, De Wu
This study was conducted to explore whether exposure to bisphenol A (BPA) during pregnancy could change intestinal digestion and absorption function in offspring using pigs as a model, and whether methyl donor (MET) could counteract the BPA-induced impacts. Fifty Landrace × Yorkshire sows were divided into four dietary groups throughout gestation: control diet (CON); control diet supplemented with BPA (50 mg/kg); control diet supplemented with MET (3 g/kg betaine, 400 mg/kg choline, 150 μg/kg vitamin B12, and 15 mg/kg folic acid); and control diet with BPA and MET supplementation (BPA + MET)...
April 26, 2017: Nutrients
https://www.readbyqxmd.com/read/28440964/effect-of-b9-and-b12-vitamin-intake-on-semen-parameters-and-fertility-of-men-with-mthfr-polymorphisms
#14
R Najafipour, S Moghbelinejad, A Aleyasin, A Jalilvand
The methylenetetrahydrofolate reductase (MTHFR) gene codes a crucial enzyme which involve in folate metabolism. The effect of MTHFR gene polymorphisms on male fertility status is uncertain and controversial. We evaluated the effect of B vitamin family intake on total homocysteine content and semen parameters of men with MTHFR gene polymorphisms. MTHFR genotypes frequency and serum total homocysteine concentration were measured among 280 men with impaired spermatogenesis (asthenospermia, oligospermia, severe oligospermia and azoospermia) and 85 control participants...
April 25, 2017: Andrology
https://www.readbyqxmd.com/read/28436623/mthfr-methylation-moderates-the-impact-of-smoking-on-dna-methylation-at-ahrr-for-african-american-young-adults
#15
Steven R H Beach, Man Kit Lei, Mei Ling Ong, Gene H Brody, Meeshanthini V Dogan, Robert A Philibert
Smoking has been shown to have a large, reliable, and rapid effect on demethylation of AHRR, particularly at cg05575921, suggesting that methylation may be used as an index of cigarette consumption. Because the availability of methyl donors may also influence the degree of demethylation in response to smoking, factors that affect the activity of methylene tetrahydrofolate reductase (MTHFR), a key regulator of methyl group availability, may be of interest. In the current investigation, we examined the extent to which individual differences in methylation of MTHFR moderated the association between smoking and demethylation at cg05575921 as well as at other loci on AHRR associated with a main effect of smoking...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28435933/the-c677t-variant-in-mthfr-modulates-associations-between-brain-integrity-mood-and-cognitive-functioning-in-old-age
#16
Florence F Roussotte, Xue Hua, Katherine L Narr, Gary W Small, Paul M Thompson
INTRODUCTION: The C677T functional variant in the methylene-tetrahydrofolate reductase (MTHFR) gene leads to reduced enzymatic activity and elevated blood levels of homocysteine. Hyperhomocysteinemia has been linked with higher rates of cardiovascular diseases, cognitive decline, and late-life depression. METHODS AND MATERIALS: Here, 3D magnetic resonance imaging data was analyzed from 738 individuals (age: 75.5 ± 6.8 years; 438 men/300 women) including 173 Alzheimer's patients, 359 subjects with mild cognitive impairment, and 206 healthy older adults, scanned as part of the Alzheimer's Disease Neuroimaging Initiative (ADNI)...
April 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/28433108/genetic-and-environmental-modifiers-of-wilson-disease
#17
Valentina Medici, Karl-Heinz Weiss
Wilson disease (WD) is characterized by remarkable variety in its phenotypic presentation. Patients with WD can present with hepatic, neurologic, and psychiatric symptoms combined in different and unpredictable ways. Importantly, no convincing phenotype-genotype correlation has ever been identified, opening the possibility that other genes, aside from ATPase copper-transporting beta (ATP7B), are involved in the pathogenesis of this condition. In addition, modifier genes, or genes that can affect the expression of other genes, may be involved...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28430351/c677t-and-a1298c-polymorphisms-of-methylene-tetrahydrofolate-reductase-in-non-hodgkin-lymphoma-southeast-iran
#18
Mohammad Ali Mashhadi, Ebrahim Miri-Moghaddam, Narges Arbabi, Ali Bazi, Zahra Heidari, Zahra Sepehri, Azra Karimkoshte, Alireza Rezvan, Seyed Mahdi Hashemi
PURPOSE: Polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene have been reported as risk factors for non-Hodgkin lymphoma (NHL) in some populations. Our goal was to evaluate the potential role of A1298C and C677T polymorphisms of MTHFR in risk of NHL in southeast Iran. METHODS: In the present case-control study, 127 patients with newly diagnosed NHL along with 150 ethnicity- and age-matched controls were examined. The A1298C and C677T polymorphisms were genotyped using the Tetra Amplification Refractory Mutation System polymerase chain reaction method...
April 14, 2017: Tumori
https://www.readbyqxmd.com/read/28425437/are-genetic-polymorphisms-in-the-renin-angiotensin-aldosterone-system-associated-with-essential-hypertension-evidence-from-genome-wide-association-studies
#19
REVIEW
L-D Ji, J-Y Li, B-B Yao, X-B Cai, Q-J Shen, J Xu
In candidate gene era, dozens of single-nucleotide polymorphisms (SNPs) within renin-angiotensin-aldosterone system (RAAS) have been reported to be significantly associated with hypertension. However, the unbiased genome-wide association studies (GWAS) rarely identified the SNPs within RAAS were associated with hypertension or blood pressure (BP) traits. In order to figure out whether genetic polymorphisms of RAAS are really associated with hypertension, we systemically searched the GWAS Catalogue and identified all the known RAAS genes and relevant diseases/traits...
April 20, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28405167/genetic-variants-and-increased-risk-of-meningioma-an-updated-meta-analysis
#20
Xiao-Yong Han, Wei Wang, Lei-Lei Wang, Xi-Rui Wang, Gang Li
PURPOSE: Various genetic variants have been reported to be linked to an increased risk of meningioma. However, no confirmed conclusion has been obtained. The purpose of the study was to investigate potential meningioma-associated gene polymorphisms, based on published evidence. MATERIALS AND METHODS: An updated meta-analysis was performed in September 2016. After electronic database searching and study screening, we selected eligible case-control studies and extracted data for meta-analysis, using Mantel-Haenszel statistics...
2017: OncoTargets and Therapy
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