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Mthfr c/t

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https://www.readbyqxmd.com/read/28500484/association-of-folate-metabolism-gene-polymorphisms-and-haplotype-combination-with-pulmonary-embolism-risk-in-chinese-han-population
#1
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/28488549/prevalence-of-1691g-a-f5-20210g-a-f2-and-677c-t-mthfr-polymorphisms-in-bosnian-women-with-pregnancy-loss
#2
Emir Mahmutbegovic, Damir Marjanovic, Edin Medjedovic, Nevena Mahmutbegovic, Serkan Dogan, Amina Valjevac, Ewa Czerska, Anna Pawińska-Matecka, Agnieszka Madlani, Grazyna Adler
The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs1801133), F2 G>A (rs1800595) and MTHFR C>T (rs1801020) polymorphisms in Bosnian women...
May 10, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28398708/evidence-of-gene-gene-interactions-between-mthfd1-and-mthfr-in-relation-to-anterior-encephalocele-susceptibility-in-northeast-india
#3
Hemonta Kr Dutta, Debasish Borbora, Mauchumi Baruah, Kanwar Narain
BACKGROUND: Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. METHODS: This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population...
April 3, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397480/genetic-polymorphism-of-mthfr-c677t-influences-susceptibility-to-hbv-related-hepatocellular-carcinoma-in-a-chinese-population-a-case-control-study
#4
Kunyan Qiao, Shitian Zhang, Congdoanh Trieu, Qinghai Dai, Zhixiao Huo, Yanan Du, Wei Lu, Wei Hou
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) is the key enzyme of folic acid metabolism and the C677T mutation is associated with decreased enzyme activity. Several studies have shown its regulatory role in carcinogenesis and tumor growth. HBV (hepatitis B virus)-related HCC (hepatocellular carcinoma) is one of the most common liver cancers worldwide. Therefore, the present case-control study aimed to investigate the role of genetic polymorphism of MTHFR C677T in the development and progression of HBV-related HCC in a Chinese population...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28374953/a-duplex-polymerase-chain-reaction-restriction-fragment-length-polymorphism-for-rapid-screening-of-methylenetetrahydrofolate-reductase-gene-variants-genotyping-in-acute-leukemia
#5
Rim Frikha, Nouha Bouayed, Bochra Ben Rhouma, Leila Keskes, Tarek Rebai
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR; NM_005957.4) is the key enzyme for folate metabolism which plays in DNA biosynthesis and the epigenetic process of DNA methylation. MTHFR gene polymorphisms, the c. 677C>T and c. 1298A>C have been implicated as risk factors for several types of cancers as the acute leukemia. AIM: We have optimized a duplex polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP) for the simultaneous detection of both variants in acute leukemia patients, from Tunisia...
April 4, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28363185/associations-of-c677t-polymorphism-in-methylenetetrahydrofolate-reductase-mthfr-gene-with-male-infertility-risk-a-meta-analysis
#6
Hui-Hui Hong, Yan Hu, Xiao-Qing Yu, Liang Zhou, Mo-Qi Lv, Ying Sun, Wen-Juan Ren, Dang-Xia Zhou
PURPOSE: Methylenetetrahydrofolate reductase is one of the key enzymes in folate metabolism. But the association between polymorphism and the risk of male infertility is still controversial. Therefore, this study used a meta-analysis on the collection of data to analyze MTHFR gene C677T polymorphism (known as c.665 C>T, rs1801133, p.Ala222Val). METHODS: PubMed, EMBASE, China National Knowledge Infrastructure (CNKI), and Wan fang. Data were searched to identify eligible studies...
May 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28342207/genetic-effect-of-mthfr-c677t-polymorphism-on-the-structural-covariance-network-and-white-matter-integrity-in-alzheimer-s-disease
#7
Yu-Tzu Chang, Shih-Wei Hsu, Shih-Jen Tsai, Ya-Ting Chang, Chi-Wei Huang, Mu-En Liu, Nai-Ching Chen, Wen-Neng Chang, Jung-Lung Hsu, Chen-Chang Lee, Chiung-Chih Chang
The 677 C to T transition in the MTHFR gene is a genetic determinant for hyperhomocysteinemia. We investigated whether this polymorphism modulates gray matter (GM) structural covariance networks independently of white-matter integrity in patients with Alzheimer's disease (AD). GM structural covariance networks were constructed by 3D T1-magnetic resonance imaging and seed-based analysis. The patients were divided into two genotype groups: C homozygotes (n = 73) and T carriers (n = 62). Using diffusion tensor imaging and white-matter parcellation, 11 fiber bundle integrities were compared between the two genotype groups...
June 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28299396/no-correlation-between-mthfr-c-677-c%C3%A2-%C3%A2-t-mthfr-c-1298-a%C3%A2-%C3%A2-c-and-abcb1-c-3435-c%C3%A2-%C3%A2-t-polymorphisms-and-methotrexate-therapeutic-outcome-of-rheumatoid-arthritis-in-west-algerian-population
#8
Wefa Boughrara, Ahmed Benzaoui, Meriem Aberkane, Fatima Zohra Moghtit, Samia Dorgham, Aicha Sarah Lardjam-Hetraf, Hadjer Ouhaibi-Djellouli, Elisabeth Petit Teixeira, Abdallah Boudjema
CONTEXT: The c.677 C > T and c.1298 A > C polymorphisms of methylenetatrahydrofolate reductase (MTHFR) gene and c.3435 C > T polymorphism of ATP-Binding cassette B1 (ABCB1) gene are reported as pharmacogenetic markers, influencing the methotrexate (MTX) therapeutic outcome in rheumatoid arthritis (RA) patients. OBJECTIVES: The aims of this study were to determine the relationship between these polymorphisms and clinical response and/or adverse drug reaction (ADRs) to MTX treatment...
March 15, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28283826/genetic-polymorphism-of-mthfr-c677t-with-preterm-birth-and-low-birth-weight-susceptibility-a-meta-analysis
#9
Han Wu, Ping Zhu, Xingyi Geng, Zhong Liu, Liangliang Cui, Zhongchun Gao, Baofa Jiang, Liping Yang
PURPOSE: This study aimed at clarifying the association of maternal and neonatal methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with preterm birth (PTB) and low birth weight (LBW) susceptibility, respectively. MATERIALS AND METHODS: A systematic search of Embase, Medline, China Biological Medicine Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang Database was performed before June, 2016. The frequencies of maternal and neonatal MTHFR C677T genotypes in the cases and controls and other information were extracted by two independent investigators...
March 10, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28267080/atic-gene-polymorphism-and-histologic-response-to-chemotherapy-in-pediatric-osteosarcoma
#10
Jeong A Park, Hee Young Shin
Accumulating evidence indicates that polymorphisms in folate pathway genes play a role in response to methotrexate (MTX) treatment in various diseases. This study explored the influence of these genetic polymorphisms on treatment outcome in pediatric osteosarcoma. Blood and tissue samples from 48 osteosarcoma patients were obtained, and the following polymorphisms were analyzed; SLC19A1 80G>A, DHFR 829C>T, MTHFR 677C>T, MTHFR 1298A>C, and ATIC 347C>G. We evaluated associations between these candidate gene polymorphisms and treatment outcome, including histologic response and event-free and overall survival, of patients treated with high-dose MTX...
March 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28266606/polymorphisms-and-pharmacogenomics-for-the-clinical-efficacy-of-methotrexate-in-patients-with-rheumatoid-arthritis-a-systematic-review-and-meta-analysis
#11
Qi Qiu, Jing Huang, Xiaoming Shu, Huizheng Fan, Youwen Zhou, Cheng Xiao
Methotrexate (MTX) is widely used and considered a first-line disease modifying anti-rheumatic drug (DMARD) for the treatment of rheumatoid arthritis (RA). Many of the relevant genes have been investigated to estimate the association between gene polymorphisms and MTX effectiveness in RA patients, although inconsistent results have been reported. A systematic review and meta-analysis were performed to identify genetic variants associated with MTX efficacy. A total of 30 publications that included 34 genes and 125 SNPs associated with the transporters, enzymes, and metabolites of MTX or the progression of RA were included in the systematic review (SR), and 21 studies were included in 9 meta-analyses...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28241805/rapidly-progressive-psychotic-symptoms-triggered-by-infection-in-a-patient-with-methylenetetrahydrofolate-reductase-deficiency-a-case-report
#12
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/28241424/exome-sequencing-in-a-family-with-luminal-type-breast-cancer-underpinned-by-variation-in-the-methylation-pathway
#13
Nicole van der Merwe, Armand V Peeters, Fredrieka M Pienaar, Juanita Bezuidenhout, Susan J van Rensburg, Maritha J Kotze
Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative breast cancer patients from the same family for WES. Homozygosity for the MTHFR 677 C>T mutation detected during this PSGT pre-screen step was considered insufficient to cause bilateral breast cancer in the index case and her daughter diagnosed with early-onset breast cancer (<30 years)...
February 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28231061/role-of-treatment-modifying-mthfr677c-t-and-1298a-c-polymorphisms-in-metformin-treated-puerto-rican-patients-with-type-2-diabetes-mellitus-and-peripheral-neuropathy
#14
Francisco J Jiménez-Ramírez, Liza M Castro, Clarymar Ortiz, Jennifer Concepción, Jessicca Y Renta, Raúl H Morales-Borges, Jorge R Miranda-Massari, Jorge Duconge
BACKGROUND: The study was conducted to investigate potential association between MTHFR genotypes and diabetic peripheral neuropathy (DPN) in Puerto Ricans with type-2 diabetes mellitus (T2DM) treated with metformin. The prevalence of major MTHFR polymorphisms in this cohort was also ascertained. METHODS: DNAs from 89 metformin-treated patients with T2DM and DPN were genotyped using the PCR-based RFLP assay for MTHFR677C>T and 1298A>C polymorphisms. Frequency distributions of these variants in the study cohort were compared to those reported for three reference populations (HapMap project) and controls (400 newborn specimens)...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28215593/influence-of-mthfr-c677t-gene-polymorphism-in-the-development-of-cardiovascular-disease-in-egyptian-patients-with-rheumatoid-arthritis
#15
Tarek A Abd El-Aziz, Rasha H Mohamed
OBJECTIVE: To investigate the association between increased carotid intima-media thickness (CIMT), homocysteine level, and MTHFR C677T (rs1801133) gene polymorphism in Egyptian people with rheumatoid arthritis (RA). SUBJECTS AND METHODS: 280 Egyptian women (160 RA patients and 120 controls) were included in the study. CIMT was measured using high resolution B-mode ultrasonography and homocysteine levels were measured using enzyme-linked immunosorbent assay. While, MTHFR C677T polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism...
April 30, 2017: Gene
https://www.readbyqxmd.com/read/28188925/impact-of-genetic-polymorphisms-in-key-enzymes-of-homocysteine-metabolism-on-the-pathophysiology-of-sickle-cell-anemia
#16
Danilo Grünig Humberto da Silva, Edis Belini Junior, Lidiane de Souza Torres, Jessika Viviani Okumura, Willian Marcel Barberino, Renan Garcia de Oliveira, Vanessa Urbinatti Teixeira, Clarisse Lopes de Castro Lobo, Eduardo Alves de Almeida, Claudia Regina Bonini-Domingos
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment. We evaluated 95 unrelated and diagnosed SCA patients. All patients received a prophylactic treatment with folic acid of 5mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22mg/kg/day)...
February 7, 2017: Free Radical Biology & Medicine
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
#17
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/28161091/associations-between-genetic-variation-in-one-carbon-metabolism-and-leukocyte-dna-methylation-in-valproate-treated-patients-with-epilepsy
#18
Guanzhong Ni, Jiaming Qin, Ziyi Chen, Hongliang Li, Jueqian Zhou, Min Huang, Liemin Zhou
BACKGROUND: Valproate (VPA) as a first-line antiepileptic drug is useful for the most types of epileptic seizure treatment. Previous studies observed that VPA influenced one-carbon metabolism (OCM), consequently, DNA methylation. However, other individual genetic variations, as well as VPA, modify DNA methylation. OBJECTIVE: In this study, we investigated associations between genetic variations in OCM and leukocyte DNA methylation in VPA-treated patients with epilepsy...
January 20, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28149021/prevalence-of-factor-v-leiden-g1691a-and-mthfr-c677t-thrombosis-gene-modifier-in-iron-deficiency-anemia-a-pathophysiological-effect-in-indian-isolates
#19
S K Pandey, S Pandey, R M Mishra, M Indurkar
Normal iron levels are required to prevent thrombocytosis by inhibiting thrombopoiesis. Thrombocytosis is usually associated with a mild iron deficiency and is the result of a lack of inhibition of thrombopoiesis. Study participants were 430 iron deficiency anemia (IDA) patients. Ten (10) mL of venous blood were collected for the subjects. Ferritin analysis was done by ELISA method while Hemogram analysis was done by auto-analyzer. Factor V Leiden, PRTG20210A, and MTHFR C677T genotype analysis was performed by PCR-RFLP method...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28133617/molecular-analysis-of-a-genetic-variants-panel-related-to-nutrients-and-metabolism-association-with-susceptibility-to-gestational-diabetes-and-cardiometabolic-risk-in-affected-women
#20
Marica Franzago, Federica Fraticelli, Antonio Nicolucci, Claudio Celentano, Marco Liberati, Liborio Stuppia, Ester Vitacolonna
Gestational diabetes mellitus (GDM) is the most frequent metabolic disorder in pregnancy. Women with a GDM history are at increased risk of developing diabetes and cardiovascular diseases. Studies have demonstrated a significant correlation between several genes involved in the metabolic pathway of insulin and environmental factors. The aim of this study was to investigate the relationship between clinical parameters in GDM and variants in genes involved with nutrients and metabolism. Several variants PPARG2 rs1801282 (C>G); PPARGC1A rs8192678 (C>T); TCF7L2 rs7903146 (C>T); LDLR rs2228671 (C>T); MTHFR rs1801133 (C>T); APOA5 rs662799 (T>C); GCKR rs1260326 (C>T); FTO rs9939609 (T>A); MC4R rs17782313 (T>C) were genotyped in 168 pregnant Caucasian women with or without GDM by High Resolution Melting (HRM) analysis...
2017: Journal of Diabetes Research
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