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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/29750744/experience-and-prognosis-of-systemic-neonatal-thrombosis-at-a-level-iii-nicu
#2
Sevim Unal, Deniz Gönülal, Betül Siyah Bilgin, Vildan Koşan Çulha, Neşe Yarali
OBJECTIVE: The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. METHODS: We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. RESULTS: Among 4376 hospitalized, 30 neonates (0.69%) were diagnosed systemic thrombosis. Their mean birth weight was 2422±1152 g (680 to 4750 g), gestational age was 35±5.4 weeks (25 to 41 wk). There were 25 neonates (83...
May 10, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29740106/the-association-between-mthfr-polymorphism-and-cervical-cancer
#3
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/29736261/choroidal-infarction-following-ophthalmic-artery-chemotherapy
#4
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/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/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
#6
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
#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/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
#8
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/29692817/methylenetetrahydrofo-late-reductase-c677t-polymorphism-and-schizophrenia-effect-of-molecular-change
#9
Sora Yasri, Viroj Wiwanitkit
No abstract text is available yet for this article.
2018: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/29678854/the-relationship-of-methylenetetrahydrofolate-reductase-gene-c677t-polymorphism-and-ischemic-stroke-in-chinese-han-population
#10
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/29658358/association-of-mthfr-c677t-gene-polymorphism-with-metabolic-syndrome-in-a-chinese-population-a-case-control-study
#11
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/29622028/association-of-parental-methylenetetrahydrofolate-reductase-mthfr-c677t-gene-polymorphism-in-couples-with-unexplained-recurrent-pregnancy-loss
#12
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
https://www.readbyqxmd.com/read/29600437/cbs-mutations-and-mtfhr-snps-causative-of-hyperhomocysteinemia-in-pakistani-children
#13
Shahnaz Ibrahim, Saadia Maqbool, Maleeha Azam, Mohammad Perwaiz Iqbal, Raheel Qamar
Three index patients with hyperhomocysteinemia and ocular anomalies were screened for cystathionine beta synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. Sanger sequencing was performed for CBS exonic sequences along with consensus splice sites. In the case of MTHFR polymorphisms, all the patients were heterozygous CT for the single nucleotide polymorphism (SNP) C677T and were therefore carriers of the risk allele (T), while the patients were homozygous CC for the risk genotype of the SNP A1298C...
March 29, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29599316/the-role-of-mthfr-genotype-in-colorectal-cancer-susceptibility-in-taiwan
#14
Kuei-Man Lin, Mei-Due Yang, Chia-Wen Tsai, Wen-Shin Chang, Chieh-Lun Hsiao, Long-Bin Jeng, Te-Cheng Yueh, Meng-Chih Lee, DA-Tian Bau
AIM: To evaluate the contribution of methylenetetrahydrofolate reductase (MTHFR) genotype to the risk of colorectal cancer (CRC) in Taiwan. MATERIALS AND METHODS: In this hospital-based case-control study, the role of MTHFR C677T (rs1801133) and A1298C (rs1801131) genotypes in determining CRC risk were investigated among 362 patients with CRC and an equal number of age- and gender-matched healthy individuals. RESULTS: The percentages of CC, CT and TT genotypes for MTHFR rs1801133 were 64...
April 2018: Anticancer Research
https://www.readbyqxmd.com/read/29589488/associations-between-gene-polymorphisms-and-treatment-outcomes-of-methotrexate-in-patients-with-juvenile-idiopathic-arthritis
#15
Yuehong Chen, Kun Zou, Jianhong Sun, Yuan Yang, Gang Liu
AIM: Performance of a meta-analysis with respect to the genetic predictors of methotrexate (MTX) treatment outcomes, efficacy and toxicity, in patients with juvenile idiopathic arthritis (JIA). METHODS: Databases of OVID MEDLINE and OVID EMBASE were searched to collect the studies addressing correlations between gene polymorphisms and efficacy and/or toxicity in MTX-treated JIA patients. Pooled odds ratios (ORs) with 95% CIs were estimated in allelic, recessive and/or dominant models...
March 28, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29581785/a-meta-analysis-methylenetetrahydrofolate-reductase-c677t-polymorphism-in-gastric-cancer-patients-treated-with-5-fu-based-chemotherapy-predicts-serious-hematologic-toxicity-but-not-prognosis
#16
Cheng Tang, Shan Yu, Huiqin Jiang, Wei Li, Xiaojing Xu, Xi Cheng, Ke Peng, Erbao Chen, Yuehong Cui, Tianshu Liu
5-fluorouracil (5-Fu) metabolism associated enzyme, methylenetetrahydrofolate reductase (MTHFR)'s polymorphism C677T can affect enzyme activity and a series of studies have been performed to examine the association of this MTHFR polymorphism with the clinical outcomes of gastric cancer (GC) patients treated with 5-Fu based chemotherapies. However, the results are inconsistent and inconclusive. Therefore, a more comprehensive summary like meta-analysis on this topic is needed. We performed a systematic literature search of PubMed and Embase up to May 20, 2017...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29564841/role-of-genetic-background-in-cardiovascular-risk-markers-changes-in-water-polo-players
#17
Debora Di Mauro, Monica Currò, Fabio Trimarchi, Mercurio Vecchio, Giuseppina Rizzo, Davide Barreca, Giuseppa Visalli, Riccardo Ientile, Daniela Caccamo
Methylene-tetrahydrofolate reductase (MTHFR) and paraoxonase 1 (PON1) gene polymorphisms have been associated with hyperhomocysteinemia and oxidative stress increase, that are established cardiovascular risk factors. Given that intense physical activity may increase the susceptibility to adverse cardiovascular outcomes, here we investigated the effects of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms on cardiovascular risk markers in twenty-eight male water polo elite players. The mean plasma levels of homocysteine (Hcy) and advanced oxidation protein products (AOPP) were above reference limits in resting conditions, and increased after competition...
March 21, 2018: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/29555401/methylenetetrahydrofolate-reductase-gene-polymorphisms-c677t-and-a1298c-and-hemorrhagic-stroke-in-moroccan-patients
#18
Omar Abidi, Mohammed Haissam, Halima Nahili, Abdessamad El Azhari, Said Hilmani, Abdelhamid Barakat
BACKGROUND: The number of deaths from hemorrhagic strokes is about twice as high than the number of deaths from ischemic strokes. Genetic risk assessment could play important roles in preventive and therapeutic strategies. The present study was aimed to evaluate whether the MTHFR gene polymorphisms could increase the risk of cerebral hemorrhage in Moroccan patients. METHODS: A total of 113 patients with hemorrhagic stroke and 323 healthy controls were included in this case-control study...
March 16, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29554656/two-common-mthfr-gene-polymorphisms-c677t-and-a1298c-and-fetal-congenital-heart-disease-risk-an-updated-meta-analysis-with-trial-sequential-analysis
#19
Rui Zhang, Caihong Huo, Xingning Wang, Bo Dang, Yaning Mu, Yuying Wang
BACKGROUND/AIMS: Published studies indicated that the MTHFR gene polymorphisms C677T and A1298C are associated with congenital heart disease (CHD) risk in children, but obtained inconsistent results. Our study aims to reach a more accurate association between these two polymorphisms and CHD risk. METHODS: Eligible studies were obtained by screening the PubMed, Embase, China National Knowledge Infrastructure, Wan Fang and VIP databases based on designed searching strategy...
March 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29545912/more-severe-toxicity-of-genetic-polymorphisms-on-mthfr-activity-in-osteosarcoma-patients-treated-with-high-dose-methotrexate
#20
Lu Xie, Wei Guo, Yi Yang, Tao Ji, Jie Xu
5,10-Methylenetrahydrofolate reductase (MTHFR), a key enzyme for folate metabolism, catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is located at the end of the short arm (1p36.3). Two common non-synonymous variants, the C677T (Ala222Val) and A1298C (Glu429Ala), were mainly described with decreased enzymatic activity and an alteration of intracellular folate distribution. Osteosarcomas are currently treated with high dose of methotrexate (MTX). The decreased enzyme activity of MTHFR theoretically could increase the drug action of MTX and at the same time increase toxic and side effect...
February 20, 2018: Oncotarget
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