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https://www.readbyqxmd.com/read/28103960/knowing-your-genes-does-this-impact-behaviour-change
#1
Clare B O'Donovan, Marianne C Walsh, Michael J Gibney, Lorraine Brennan, Eileen R Gibney
It is postulated that knowledge of genotype may be more powerful than other types of personalised information in terms of motivating behaviour change. However, there is also a danger that disclosure of genetic risk may promote a fatalistic attitude and demotivate individuals. The original concept of personalised nutrition (PN) focused on genotype-based tailored dietary advice; however, PN can also be delivered based on assessment of dietary intake and phenotypic measures. Whilst dietitians currently provide PN advice based on diet and phenotype, genotype-based PN advice is not so readily available...
January 20, 2017: Proceedings of the Nutrition Society
https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#2
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28086795/atherosclerotic-and-thrombotic-genetic-and-environmental-determinants-in-egyptian-coronary-artery-disease-patients-a-pilot-study
#3
Manal S Fawzy, Eman A Toraih, Nagwa M Aly, Abeer Fakhr-Eldeen, Dahlia I Badran, Mohammad H Hussein
BACKGROUND: Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide. Multiple genetic variants in combination with various environmental risk factors have been implicated. This study aimed to investigate the association of twelve thrombotic and atherosclerotic gene variants in combination with other environmental risk factors with CAD risk in a preliminary sample of Egyptian CAD patients. METHODS: Twenty three consecutive CAD patients undergoing diagnostic coronary angiography and 34 unrelated controls, have been enrolled in the study...
January 13, 2017: BMC Cardiovascular Disorders
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
#4
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/28069796/high-dietary-folate-in-pregnant-mice-leads-to-pseudo-mthfr-deficiency-and-altered-methyl-metabolism-with-embryonic-growth-delay-and-short-term-memory-impairment-in-offspring
#5
Renata H Bahous, Nafisa M Jadavji, Liyuan Deng, Marta Cosín-Tomás, Jessica Lu, Olga Malysheva, Kit-Yi Leung, Ming-Kai Ho, Mercè Pallàs, Perla Kaliman, Nicholas DE Greene, Barry J Bedell, Marie A Caudill, Rima Rozen
Methylenetetrahydrofolate reductase (MTHFR) generates methyltetrahydrofolate for methylation reactions. Severe MTHFR deficiency results in homocystinuria and neurologic impairment. Mild MTHFR deficiency (677C>T polymorphism) increases risk for complex traits, including neuropsychiatric disorders. Although low dietary folate impacts brain development, recent concerns have focused on high folate intake following food fortification and increased vitamin use. Our goal was to determine whether high dietary folate during pregnancy affects brain development in murine offspring...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28062297/the-association-between-mthfr-gene-c677t-polymorphism-and-all-risk-based-on-a-meta-analysis-involving-17-469-subjects
#6
Beibei Zhang, Weiming Zhang, Liang Yan, Daogang Wang
BACKGROUND: The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is closely related to the acute lymphoblastic leukaemia (ALL) indicated by many previous epidemiologic studies. However, their conclusions were still conflicting. METHODS: Our aim is to evaluate their associations using a more comprehensive updated meta-analysis. Electronic searches were conducted to select published studies prior to February, 2016. RESULTS: Totally, 39 case-control studies including 6551 ALL cases and 10,918 controls were selected in current meta-analysis...
January 3, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28061365/primer-design-for-snp-genotyping-based-on-allele-specific-amplification-application-to-organ-transplantation-pharmacogenomics
#7
Luis A Tortajada-Genaro, Rosa Puchades, Ángel Maquieira
Diagnostic methods based on single nucleotide polymorphism (SNP) biomarkers are essential for the real adoption of personalized medicine. Allele specific amplification in a homogeneous format or combined to microarray hybridization are powerful approaches for SNP genotyping. However, primers must be properly selected to minimize cross-reactivity, dimer formation and nonspecific hybridization. This study presents a design workflow diagram for the selection of required oligonucleotides for multiplex assays. Based on thermodynamic restrictions, the oligonucleotide sets are chosen for a specific amplification of wild- and mutant-type templates...
December 29, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28046029/genetic-variants-in-mthfr-gene-predict-%C3%A2-2-radiation-pneumonitis-in-esophageal-squamous-cell-carcinoma-patients-treated-with-thoracic-radiotherapy
#8
Yang Zhang, Zongjuan Li, Jian Zhang, Hongsheng Li, Yumei Qiao, Chengsuo Huang, Baosheng Li
Reactive oxygen species (ROS), formed as an indirect production of radiotherapy (RT), could cause DNA damage of normal tissues. Meanwhile, our body possesses the ability to restore the damage by DNA repair pathways. The imbalance between the two systems could finally result in radiation injury. Therefore, in this prospective cohort study, we explored the association of genetic variants in ROS metabolism and DNA repair pathway-related genes with radiation pneumonitis (RP). A total of 265 locally advanced esophageal squamous cell carcinoma (ESCC) patients receiving RT in Chinese Han population were enrolled...
2017: PloS One
https://www.readbyqxmd.com/read/28045918/response-of-mirna-22-3p-and-mirna-149-5p-to-folate-deficiency-and-the-differential-regulation-of-mthfr-expression-in-normal-and-cancerous-human-hepatocytes
#9
Chao Li, Juan Ni, Yao-Xian Liu, Han Wang, Zi-Qing Liang, Xu Wang
BACKGROUND/AIMS: Folic acid (FA) is a core micronutrient involved in DNA synthesis/methylation, and the metabolism of FA is responsible for genomic stability. MicroRNAs may affect gene expression during folate metabolism when cellular homeostasis is changed. This study aimed to reveal the relationship between FA deficiency and the expression of miR-22-p/miR-149-5p and the targeted regulation of miR-22-3p/miR-149-5p on the key folate metabolic gene Methylenetetrahydrofolate reductase (MTHFR)...
2017: PloS One
https://www.readbyqxmd.com/read/28031756/does-the-mthfr-a1298c-polymorphism-modulate-the-cardiorespiratory-response-to-training
#10
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/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/28028391/vascular-genetic-variants-and-ischemic-stroke-susceptibility-in-albanians-from-the-republic-of-macedonia
#12
Bajram Kamberi, Farije Kamberi, Mirko Spiroski
BACKGROUND: Acute first-ever ischemic stroke (FIS) is a heterogeneous, polygenic disorder. The contribution of vascular genetic variants as inherited causes of ischemic stroke has remained controversial. AIM: To examine the association of genetic variants in vascular factors with the occurrence of FIS. MATERIAL AND METHODS: The current research was performed in a group of 39 patients with FIS (study group) and 102 healthy volunteers (control group)...
December 15, 2016: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28002332/the-association-of-the-mthfr-c677t-polymorphism-with-inflammatory-bowel-diseases-in-the-israeli-jewish-population-an-example-of-genetic-heterogeneity
#13
Amir Karban, Tzah Feldman, Matti Waterman, Ronit Leiba, Edna Efrati
MTHFR C677T is a common gene polymorphism that has been shown to be associated with hyperhomocysteinemia. Studies on the role of MTHFR in inflammatory bowel diseases (IBD) have yielded conflicting results, perhaps due in part to genetic heterogeneity. The prevalence of the MTHFR C677T variant allele varies according to Jewish subpopulations: Ashkenazi vs non-Ashkenazi. The aim of this study was to examine the association between MTHFR C677T genotype and IBD in the different Jewish populations.DNA samples were assessed for the presence of the MTHFR C677T variant allele in 445 Jewish Israeli IBD patients: 338 with Crohn's disease [CD] (214 Ashkenazi and 124 non-Ashkenazi Jews) and 107 with ulcerative colitis [UC] (73 Ashkenazi and 34 non-Ashkenazi Jews), and in 347 healthy controls: 173 Ashkenazi and 174 Non-Ashkenazi Jews...
December 2016: Medicine (Baltimore)
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/27999265/gene-specific-methylation-analysis-in-thymomas-of-patients-with-myasthenia-gravis
#15
Angela Lopomo, Roberta Ricciardi, Michelangelo Maestri, Anna De Rosa, Franca Melfi, Marco Lucchi, Alfredo Mussi, Fabio Coppedè, Lucia Migliore
Thymomas are uncommon neoplasms that arise from epithelial cells of the thymus and are often associated with myasthenia gravis (MG), an autoimmune disease characterized by autoantibodies directed to different targets at the neuromuscular junction. Little is known, however, concerning epigenetic changes occurring in thymomas from MG individuals. To further address this issue, we analyzed DNA methylation levels of genes involved in one-carbon metabolism (MTHFR) and DNA methylation (DNMT1, DNMT3A, and DNMT3B) in blood, tumor tissue, and healthy thymic epithelial cells from MG patients that underwent a surgical resection of a thymic neoplasm...
December 16, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27996344/association-of-methylenetetrahydrofolate-reductase-gene-gene-interaction-and-haplotype-with-susceptibility-to-acute-lymphoblastic-leukemia-in-chinese-children
#16
Xiaojun Xia, Yun Duan, Jie Cui, Junfeng Jiang, Li Lin, Xiaojuan Peng, YuHong Wang, Bingtao Guo, Shouhai Liu, Xudong Lei
The aim of this study was to investigate the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and additional gene-gene interaction with acute lymphoblastic leukemia (ALL) risk. Logistic regression was performed to investigate the association between two single nucleotide polymorphisms (SNPs) within MTHFR gene and ALL risk and additional gene-gene interaction between rs1801133 and rs1801131. The minor allele of rs1801133 and rs1801131 is associated with decreased ALL risk, OR (95% CI) were 0...
December 20, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27996298/genetic-interactions-in-nonsyndromic-orofacial-clefts-in-europe-eurocran-study
#17
Peter A Mossey, Julian Little, Regine Steegers-Theunissen, Anne Molloy, Borut Peterlin, William C Shaw, Candice Johnson, David R FitzPatrick, Paola Franceschelli, Michele Rubini
BACKGROUND:   Nonsyndromic cleft lip with or without cleft palate (nsCL±P) and nonsyndromic cleft palate (nsCP) are caused by a combination of genetic and environmental risk factors. We investigated gene-environment and gene-gene joint effects in a large multicenter study of case-parent triads. METHODS:   The nsCL±P or nsCP triads were recruited in 11 European countries between 2001 and 2005. We collected DNA samples from infants and from their mothers and fathers, and mothers completed a questionnaire on exposures, including smoking and folic acid supplement use during pregnancy...
December 20, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27994504/genetic-analysis-of-bdnf-gnb3-mthfr-ace-and-apoe-variants-in-major-and-recurrent-depressive-disorders-in-russia
#18
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/27992285/are-gene-polymorphisms-related-to-treatment-outcomes-of-methotrexate-in-patients-with-rheumatoid-arthritis-a-systematic-review-and-meta-analysis
#19
Yuehong Chen, Kun Zou, Jianhong Sun, Yuan Yang, Gang Liu
AIM: Identifying the predictors of responsiveness and adverse events in methotrexate (MTX) treated patients with rheumatoid arthritis (RA) has been the focus of most concern, but still without consistent consensus. METHODS: PubMed and OVID EMBASE were searched to collect relevant studies that addressed correlations between gene polymorphisms and efficacy and/or toxicity in MTX-treated RA patients. Allelic, recessive, dominant and over-dominant model were applied...
January 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/27990443/glucose-tolerance-mthfr-c677t-and-nos3-g894t-polymorphisms-and-global-dna-methylation-in-mixed-ancestry-african-individuals
#20
Tandi E Matsha, Carmen Pheiffer, Tinashe Mutize, Rajiv T Erasmus, Andre P Kengne
The aim of this study is to quantify global DNA methylation and investigate the relationship with diabetes status and polymorphisms in MTHFR C677T and NOS3 G894T genes in mixed ancestry subjects from South Africa. Global DNA methylation was measured, and MTHFR rs1801133 and NOS3 rs1799983 polymorphisms were genotyped using high throughput real-time polymerase chain reaction and direct DNA sequencing. Of the 564 participants, 158 (28%) individuals had T2DM of which 97 (17.2%) were screen-detected cases. Another 119 (21...
2016: Journal of Diabetes Research
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