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MTHFR GENE

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https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#1
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29737941/are-congenital-urinary-tract-abnormalities-linked-to-maternal-methylenetetrahydrofolate-reductase-polymorphisms-in-fetuses-of-intentionally-terminated-pregnancies-with-oligo-or-anhydramnios
#2
M Sinan Beksac, Alp Tuna Beksac, Melek Buyukeren, Atakan Tanacan, Hatice Bektas, Safak Gucer
OBJECTIVE: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. MATERIALS AND METHODS: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases...
May 8, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29736261/choroidal-infarction-following-ophthalmic-artery-chemotherapy
#3
Kelley J Bohm, Y Pierre Gobin, Jasmine H Francis, Gabrielle McInerney, Anahita Dabo-Trubelja, Paul H Dalecki, Brian P Marr, David H Abramson
Background: Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (N2 O) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive N2 O during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk. Case presentations: Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts...
2018: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29732742/gene-variants-in-the-folate-pathway-are-associated-with-increased-levels-of-folate-receptor-autoantibodies
#4
Yuqi Dong, Linlin Wang, Yunping Lei, Na Yang, Robert M Cabrera, Richard H Finnell, Aiguo Ren
BACKGROUND: Folate receptors (FRs) facilitate embryonic uptake of folates and are important for proper early embryonic development. There is accumulating evidence that blocking FR autoantibodies contribute to developmental diseases. However, genetic factors associated with the expression of FR autoantibodies remain unknown. OBJECTIVE: We investigated the effects of genetic polymorphisms in folate pathway genes on FR autoantibody titers in women. METHODS: We recruited 302 pregnant women in China...
May 6, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29722849/an-evidence-based-approach-to-globally-assess-the-covariate-dependent-effect-of-the-mthfr-single-nucleotide-polymorphism-rs1801133-on-blood-homocysteine-a-systematic-review-and-meta-analysis
#5
Huifeng Jin, Haojie Cheng, Wei Chen, Xiaoming Sheng, Mark A Levy, Mark J Brown, Junqiang Tian
Background: The single nucleotide polymorphism of the gene 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T (or rs1801133) is the most established genetic factor that increases plasma total homocysteine (tHcy) and consequently results in hyperhomocysteinemia. Yet, given the limited penetrance of this genetic variant, it is necessary to individually predict the risk of hyperhomocysteinemia for an rs1801133 carrier. Objective: We hypothesized that variability in this genetic risk is largely due to the presence of factors (covariates) that serve as effect modifiers, confounders, or both, such as folic acid (FA) intake, and aimed to assess this risk in the complex context of these covariates...
May 1, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29721173/salivary-micrornas-as-new-molecular-markers-in-cleft-lip-and-palate-a-new-frontier-in-molecular-medicine
#6
Vincenzo Grassia, Angela Lombardi, Hiromichi Kawasaki, Carmela Ferri, Letizia Perillo, Laura Mosca, Donatella Delle Cave, Ludovica Nucci, Marina Porcelli, Michele Caraglia
MicroRNAs (miRNAs) are endogenous non-coding RNAs of about twenty-two nucleotides that regulate gene expression through post-transcriptional control. The purpose of the present study was to identify and describe the salivary miRNAs in cleft lip and palate (CLP) patients comparing them with a control healthy group. Twelve patients (mean age 11.9 ± 2.42 years; 6M/6F) formed the study group. The control group was created selecting twelve healthy subjects matched for age and sex with study group. We recorded differences in miRNA expression profile between the saliva of CLP patients and the control group...
April 10, 2018: Oncotarget
https://www.readbyqxmd.com/read/29702041/influence-of-the-c677t-polymorphism-of-the-mthfr-gene-on-oxidative-stress-in-women-with-overweight-or-obesity-response-to-a-dietary-folate-intervention
#7
Marina Ramalho Ribeiro, Raquel Patrícia Ataíde Lima, Jéssica Vanessa de Carvalho Lisboa, Thamires Ribeiro Chaves, Rafaella Cristhine Pordeus Luna, Rayner Anderson Ferreira do Nascimento, Yohanna de Oliveira, Darlene Camati Persuhn, Alexandre Sérgio da Silva, Maria da Conceição Rodrigues Gonçalves, Flávia Emília Leite de Lima Ferreira, Roberto Teixeira Lima, Alcides da Silva Diniz, Alessio Tony Cavalcanti de Almeida, Ronei Marcos de Moraes, Eliseu Verly Junior, Maria José de Carvalho Costa
The C677T polymorphism of the methylenetetrahydrofolate reductase gene (MTHFR) is related to folate metabolism and can alter the levels of biochemical markers. OBJECTIVE: Investigate the influence of the MTHFR C677T polymorphism on the effects of a dietary folate intervention on oxidative stress in women with overweight or obesity. METHODS: Forty-eight adult women with overweight or obesity were subjected to a 24-hour dietary recall, anthropometric measurements, biochemical analysis, and genotyping of the MTHFR C677T polymorphism...
April 27, 2018: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/29700634/frequency-of-pathogenic-germline-mutations-in-cancer-susceptibility-genes-in-breast-cancer-patients
#8
Raman Preet Kaur, Gowhar Shafi, Raja Paramjeet Singh Benipal, Anjana Munshi
In this study, we evaluated the incidence of pathogenic germline mutations in 30 breast cancer susceptibility genes in breast cancer patients. Our aim was to understand the involvement of the inherited mutations in these genes in a breast cancer cohort. Two hundred ninety-six female breast cancer patients including 4.5% of familial breast cancer cases were included in the study. 200 ng of genomic DNA was used to evaluate the pathogenic mutations, detected using Global Screening Array (GSA) microchip (Illumina Inc...
April 26, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29695692/-multiplex-genotyping-of-allelic-variants-of-genes-involved-in-metabolizing-antileukemic-drugs
#9
D O Fesenko, M A Avdonina, L G Gukasyan, S A Surzhikov, A V Chudinov, A S Zasedatelev, T V Nasedkina
A biochip, primer set, and genotyping protocol were developed to simultaneously address 16 single nucleotide polymorphisms in antileukemic drug metabolism genes, including TPMT, ITPA, MTHFR, SLCO1B1, SLC19A1, NR3C1, GRIA1, ASNS, MTRR, and ABCB1. The genotyping procedure included a one-round multiplex polymerase chain reaction (PCR) with simultaneous incorporation of a fluorescent label into the PCR product and subsequent hybridization on a biochip with immobilized probes. The method was used to test 65 DNA samples of leukemia patients...
March 2018: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/29694640/the-relationship-between-of-ace-i-d-and-the-mthfr-c677t-polymorphisms-in-the-pathophysiology-of-type-2-diabetes-mellitus-in-a-population-of-brazilian-obese-patients
#10
Flavio Fontes Pirozzi, Edis Belini Junior, Jessika Viviani Okumura, Mariana Salvarani, Claudia Regina Bonini-Domingos, Milton Artur Ruiz
Objectives This study aimed to evaluate the frequencies of the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms in obese patients with and without type 2 diabetes mellitus (T2DM). Subjects and methods These polymorphisms were analyzed by polymerase chain reaction in 125 patients with obesity, 47 (T2DM) and 78 (Control Group). Results No significant difference was found on comparing the T2DM and Control Groups in respect to the genotypic frequencies of the polymorphisms - (II: 13...
February 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29683944/slco1b1-polymorphisms-are-associated-with-drug-intolerance-in-childhood-leukemia-maintenance-therapy
#11
İrem Eldem, Duygu Yavuz, Özge Cumaoğullari, Talia İleri, Elif Ünal İnce, Mehmet Ertem, Beyza Doğanay Erdoğan, Recep Bindak, Hilal Özdağ, N Lale Şatiroğlu-Tufan, L Zümrüt Uysal
BACKGROUND: Therapy discontinuations and toxicities occur because of significant interindividual variations in 6-mercaptopurine (6-MP) and methotrexate (MTX) response during maintenance therapy of childhood acute lymphoblastic leukemia (ALL). 6-MP/MTX intolerance in some of the patients cannot be explained by thiopurine S-methyl transferase (TPMT) gene variants. In this study, we aimed to investigate candidate pharmacogenetic determinants of 6-MP and MTX intolerance in Turkish ALL children...
April 20, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29678854/the-relationship-of-methylenetetrahydrofolate-reductase-gene-c677t-polymorphism-and-ischemic-stroke-in-chinese-han-population
#12
Xinlei Mao, Liya Han
BACKGROUND: The purpose of this study was to investigate the relationship of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and ischemic stroke Large-artery atherosclerosis (LAA) and Small-artery occlusion (SAO) subtypes in Chinese Han Population. MATERIALS AND METHODS: One hundred and thirty LAA patients and one hundred and fifty-nine SAO patients data were prospectively collected. The control group was one hundred and ninety-eight subjects from the Medical Examination Center in the same period...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29669328/tagging-functional-polymorphism-in-3-untranslated-region-of-methylene-tetrahydrofolate-reductase-and-risk-of-ischemic-stroke
#13
Jiajia Shi, Wei He, Yu Wang, Jiajia Hua
BACKGROUND/AIMS: The association between genetic polymorphisms in the exon or untranslated region of the methylenetetrahydrofolate reductase gene (MTHFR) and the risk of human ischemic stroke (IS) has been well-documented. In this study, we focused on a polymorphism previously screened by high-throughput analysis and on its potential function in patients with IS Methods: This hospital-based case-control study was conducted in 400 patients and 400 healthy volunteers. Genotyping was conducted using TaqMan probes...
April 13, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29662106/pharmacogenetics-of-platinum-based-chemotherapy-impact-of-dna-repair-and-folate-metabolism-gene-polymorphisms-on-prognosis-of-non-small-cell-lung-cancer-patients
#14
Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Ahmed Alnatsha, Eduardo Villar, Javier Valdivia-Bautista, María José Faus-Dáder, Miguel Ángel Calleja-Hernández
Chemotherapy based on platinum compounds is the standard treatment for NSCLC patients with EGFR wild type, and is also used as second line in mutated EGFR patients. Nevertheless, this therapy presents poor clinical outcomes. ERCC1, ERCC2, XRCC1, MDM2, MTHFR, MTR, and SLC19A1 gene polymorphisms may contribute to individual variation in response and survival to platinum-based chemotherapy. The aim of this study was to investigate the influence of these polymorphisms on response and survival of NSCLC patients treated with platinum-based chemotherapy...
April 17, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29658358/association-of-mthfr-c677t-gene-polymorphism-with-metabolic-syndrome-in-a-chinese-population-a-case-control-study
#15
Jin Wang, Lijuan Xu, Hongmiao Xia, Ying Li, Shiqi Tang
Objective To investigate the association of the MTHFR C677T gene polymorphism with metabolic syndrome (MetS) in people in Hubei Province, China. Methods A case-control study was conducted with 651 subjects with MetS (MetS group) and 727 healthy controls (control group) at Renmin Hospital of Wuhan University between January and December 2016. The MTHFR C677T genotype was detected by the gene chip technique and clinical data were collected. Results Body mass index, waist circumference, the waist-hip-ratio, systolic and diastolic blood pressure, fasting blood glucose, fasting insulin, triglyceride, total cholesterol, low-density lipoprotein-cholesterol, and homocysteine levels, and the homeostasis model assessment of insulin resistance were higher in the MetS group than in controls...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29658346/association-between-thrombophilia-gene-polymorphisms-and-recurrent-pregnancy-loss-risk-in-the-iranian-population
#16
Razieh Bigdeli, Mohammad Reza Younesi, Erfan Panahnejad, Vahid Asgary, Samaneh Heidarzadeh, Hoda Mazaheri, Samira Louni Aligoudarzi
Miscarriage is the most common complication in pregnancy. Considering the importance of the problem thrombophilia in pregnant women and its association with recurrent pregnancy loss (RPL), analysis of polymorphisms of genes involved in thrombophilia can be useful. We investigated the frequency and association between ten polymorphisms of seven thrombophilia genes and RPL in an Iranian population. This case-control study was conducted on 200 women with recurrent pregnancy loss and also on 200 women with at least one successful pregnancy as the control group...
April 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29644956/genetic-polymorphisms-of-key-enzymes-in-folate-metabolism-affect-the-efficacy-of-folate-therapy-in-patients-with-hyperhomocysteinaemia
#17
Binghui Du, Huizi Tian, Dandan Tian, Chengda Zhang, Wenhua Wang, Lianke Wang, Mengying Ge, Quanliang Hou, Weidong Zhang
The aim of this study is to analyse the efficacy rate of folate for the treatment of hyperhomocysteinaemia (HHcy) and to explore how folate metabolism-related gene polymorphisms change its efficacy. This study also explored the effects of gene-gene and gene-environment interactions on the efficacy of folate. A prospective cohort study enrolling HHcy patients was performed. The subjects were treated with oral folate (5 mg/d) for 90 d. We analysed the efficacy rate of folate for the treatment of HHcy by measuring homocysteine (Hcy) levels after treatment...
April 2018: British Journal of Nutrition
https://www.readbyqxmd.com/read/29644877/protective-effects-of-folic-acid-on-dna-damage-and-dna-methylation-levels-induced-by-n-methyl-n-nitro-n-nitrosoguanidine-in-kazakh-esophageal-epithelial-cells
#18
Y Chen, H Feng, D Chen, K Abuduwaili, X Li, H Zhang
The protective effects of folic acid on DNA damage and DNA methylation induced by N-methyl- N'-nitro- N-nitrosoguanidine (MNNG) in Kazakh esophageal epithelial cells were investigated using a 3 × 3 factorial design trial. The cells were cultured in vitro and exposed to media containing different concentrations of folic acid and MNNG, after which growth indices were detected. DNA damage levels were measured using comet assays, and genome-wide DNA methylation levels (MLs) were measured using high-performance liquid chromatography...
January 1, 2018: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/29627528/the-association-between-donor-genetic-variations-in-one-carbon-metabolism-pathway-genes-and-hepatitis-b-recurrence-after-liver-transplantation
#19
Di Lu, Jianyong Zhuo, Modan Yang, Chao Wang, Pan Linhui, Haiyang Xie, Xiao Xu, Shusen Zheng
BACKGROUNDS AND AIM: Hepatitis B recurrence adversely affects patients' survival after liver transplantation. This study aims to find association between donor gene variations of one carbon metabolism and post-transplant hepatitis B recurrence. METHODS: This study enrolled 196 patients undergoing liver transplantation for HBV related end-stage liver diseases. We detected 11 single nucleotide polymorphisms (SNP) of 7 one-carbon metabolism pathway genes (including MTHFR, MTR, MTRR, ALDH1L1, GART, SHMT1 and CBS) in donor livers and analyzed their association with HBV reinfection after liver transplantation...
April 5, 2018: Gene
https://www.readbyqxmd.com/read/29622028/association-of-parental-methylenetetrahydrofolate-reductase-mthfr-c677t-gene-polymorphism-in-couples-with-unexplained-recurrent-pregnancy-loss
#20
Anil Kumar Sah, Nisha Shrestha, Pratikshya Joshi, Renu Lakha, Sweta Shrestha, Laxmi Sharma, Avinash Chandra, Neetu Singh, Yuvraj Kc, Bhola Rijal
OBJECTIVE: The aim of this study was to identify the association of parental MTHFR C677T gene polymorphism in couples with and without RPL history. RESULTS: During the study, 21.4% (15/70) of Ala222Val polymorphism was observed among RPL couples while no polymorphism was seen among normal, healthy couples. Our study did not find any association between MTHFR C677T polymorphism and gender (p > 0.05), gestational period (p > 0.05), geographical region (p > 0...
April 5, 2018: BMC Research Notes
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