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https://www.readbyqxmd.com/read/29778421/comparison-of-two-groups-for-the-apolipoprotein-e-polymorphisms-by-using-next-generation-sequencing-the-first-group-with-three-consecutive-abortions-and-the-second-group-with-at-most-one-abortion-in-three-consecutive-pregnancies
#1
Evren Gumus
The importance of apolipoprotein E genotypes and allelic polymorphisms in the etiology of recurrent miscarriage is controversial. We plan to investigate this in a two-group study involving more than a thousand participants. In total, 1046 subjects (802 participants in the first group, 244 participants in the second group) were investigated. Women in the first group had a history of ≥3 consecutive spontaneous miscarriage and women in the second group had at most one miscarriage in three consecutive pregnancies...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29762928/early-thrombosis-of-a-mitral-annuloplasty-ring-in-a-patient-with-mthfr-and-factor-v-leiden-mutations
#2
Sinan Cerşit, Emrah Bayam, Sabahattin Gündüz, Mehmet Özkan
Mitral annuloplasty ring thrombosis is an extremely infrequent pathology, for which no evidence-based antithrombotic management has yet been described. Herein is presented a case of heterozygous Factor V Leiden (FVL) and hyperhomocysteinemia with homozygous methylenetetrahydrofolate reductase (MTHFR) mutations that caused early thrombosis of the mitral annuloplasty ring. The clinical management and antithrombotic treatment of the patient, and the implications of hyperhomocysteinemia, are discussed. Video 1: Mobile 9-mm thrombus of mitral annuloplasty ring on two-dimensional (2D) transesophageal echocardiography...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#3
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/29740106/the-association-between-mthfr-polymorphism-and-cervical-cancer
#4
Jiao-Mei Gong, Yong Shen, Wan-Wan Shan, Yan-Xia He
Cervical cancer is an extremely prevalent disease worldwide. The purpose of this study was to illustrate the relationship between methylenetetrahydrofolate reductase (MTHFR) polymorphisms or methionine synthase reductase (MTRR) polymorphisms and cervical cancer. There were 372 women who performed genetic and folic acid assessments. For the MTHFR C677T, there was no significant difference in the distribution of C allele and T allele in the three groups. However, the mutant C allele of MTHFR A1298C was significantly higher in the cancer group than in the normal group...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29739057/cell-line-controls-for-the-genotyping-of-a-spectrum-of-human-single-nucleotide-polymorphisms-in-the-clinical-laboratory
#5
Christine Kimbacher, Christian Paar, Andrea Freystetter, Joerg Berg
BACKGROUND: Genotyping for clinically important single nucleotide polymorphisms (SNPs) is performed by many clinical routine laboratories. To support testing, quality controls and reference materials are needed. Those may be derived from residual patient samples, left over samples of external quality assurance schemes, plasmid DNA or DNA from cell lines. DNAs from cell lines are commutable and available in large amounts. METHODS: DNA from 38 cell lines were examined for suitability as controls in 11 SNP assays that are frequently used in a clinical routine laboratory: FV (1691G>A), FII (20210G>A), PAI-1 4G/5G polymorphism, MTHFR (677C>T, 1298A>C), HFE (H63D, S65C, C282Y), APOE (E2, E3, E4), LPH (-13910C>T), UGT1A1 (*28, *36, *37), TPMT (*2, *3A, *3B, *3C), VKORC1 (-1639G>A, 1173C>T), CYP2C9 (*2, *3, *5)...
May 1, 2018: Clinical Laboratory
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
#6
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/29737822/effects-of-mthfr-a1298c-polymorphism-on-peripheral-blood-folate-concentration-in-healthy-populations-a-meta-analysis-of-observational-studies
#7
Yu Xin, Lihua Wu, Xiaolin Lu, Shaofang Shangguan, Zhen Wang, Shaoyan Chang, Jiyong Yin, Wei Piao, Ting Zhang, Li Wang
BACKGROUND AND OBJECTIVES: Methylenetetrahydrofolate reductase (MTHFR) irreversibly converts 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is the main form of folate used in the body. Previous studies suggest that MTHFR polymorphism influences folate metabolism, but conflicting results are reported. We performed a meta-analysis to accurately characterize the association between MTHFR A1298C polymorphism and peripheral blood folate concentration in healthy populations...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29736261/choroidal-infarction-following-ophthalmic-artery-chemotherapy
#8
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
#9
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
#10
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
#11
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/29703881/the-association-of-factor-v-g1961a-factor-v-leiden-prothrombin-g20210a-mthfr-c677t-and-pai-1-4g-5g-polymorphisms-with-recurrent-pregnancy-loss-in-bosnian-women
#12
Amela Jusić, Devleta Balić, Aldijana Avdić, Maja Pođanin, Adem Balić
Aim To investigate association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Methods A total of 60 women with two or more consecutive miscarriages before 20 weeks of gestation with the same partners and without history of known causes or recurrent pregnancy loss were included. A control group included 80 healthy women who had one or more successful pregnancies without history of any complication which could be associated with miscarriages...
August 1, 2018: Medicinski Glasnik
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
#13
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
#14
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
#15
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
#16
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/29685716/homocysteine-and-incident-atrial-fibrillation-the-atherosclerosis-risk-in-communities-study-and-the-multi-ethnic-study-of-atherosclerosis
#17
Yasuhiko Kubota, Alvaro Alonso, Susan R Heckbert, Faye L Norby, Aaron R Folsom
BACKGROUND: Although many studies have investigated the association of blood homocysteine with major cardiovascular diseases such as coronary heart disease and stroke, research on its association with atrial fibrillation (AF) is scarce. METHODS: We analysed data from Atherosclerosis Risk in Communities (ARIC) Study (n=492, age 45-64 years) and Multi-Ethnic Study of Atherosclerosis (MESA) (n=6,641, age 45-84 years). RESULTS: During the 10,106 and 67,613 person-years of follow-up, we identified 85 and 351 AF events in ARIC and MESA, respectively...
March 21, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29683944/slco1b1-polymorphisms-are-associated-with-drug-intolerance-in-childhood-leukemia-maintenance-therapy
#18
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
#19
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
#20
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
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