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https://www.readbyqxmd.com/read/29740106/the-association-between-mthfr-polymorphism-and-cervical-cancer
#1
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
#2
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/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
#3
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/29678854/the-relationship-of-methylenetetrahydrofolate-reductase-gene-c677t-polymorphism-and-ischemic-stroke-in-chinese-han-population
#4
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
#5
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
#6
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
#7
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/29624150/frequency-and-characteristics-associated-with-inherited-thrombophilia-in-patients-with-intracranial-dural-arteriovenous-fistula
#8
Sara C LaHue, Helen Kim, Ludmila Pawlikowska, Jeffrey Nelson, Daniel L Cooke, Steven W Hetts, Vineeta Singh
OBJECTIVE The pathogenesis of dural arteriovenous fistulas (DAVFs) remains poorly defined. Prior studies on thrombophilia as a risk factor for DAVF development are limited by small sample sizes and poor generalizability. METHODS In this longitudinal observational study, all patients with intracranial DAVFs evaluated at the University of California, San Francisco from December 1994 through April 2014 were identified. After obtaining patient consent, 3 thrombophilic mutations, factor V Leiden (rs6025), MTHFR (rs1801133), and prothrombin G20210A, were genotyped...
April 6, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29600437/cbs-mutations-and-mtfhr-snps-causative-of-hyperhomocysteinemia-in-pakistani-children
#9
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
#10
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/29566195/lifestyle-metabolite-and-genetic-determinants-of-formate-concentrations-in-a-cross-sectional-study-in-young-healthy-adults
#11
John T Brosnan, James L Mills, Per M Ueland, Barry Shane, Ruzong Fan, Chi-Yang Chiu, Faith Pangilinan, Lawrence C Brody, Margaret E Brosnan, Theerawat Pongnopparat, Anne M Molloy
Background: Formate is an important metabolite that serves as a donor of one-carbon groups to the intracellular tetrahydrofolate pool. However, little is known of its circulating concentrations or of their determinants. Objective: This study aimed to define formate concentrations and their determinants in a healthy young population. Design: Serum formate was measured in 1701 participants from the Trinity Student Study. The participants were men and women, aged 18 to 28 y, enrolled at Trinity College, Dublin...
March 1, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29564022/no-evidence-for-association-of-mthfr-677c-t-and-1298a-c-variants-with-placental-dna-methylation
#12
Giulia F Del Gobbo, E Magda Price, Courtney W Hanna, Wendy P Robinson
Background: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in the MTHFR gene, 677C>T and 1298A>C, result in a thermolabile enzyme with reduced function. These variants, in both the maternal and/or fetal genes, have been associated with pregnancy complications including miscarriage, neural tube defects (NTDs), and preeclampsia (PE), perhaps due to altered capacity for DNA methylation (DNAm)...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29544444/significant-association-between-ercc2-and-mthr-polymorphisms-and-breast-cancer-susceptibility-in-moroccan-population-genotype-and-haplotype-analysis-in-a-case-control-study
#13
Hanaa Hardi, Rahma Melki, Zouhour Boughaleb, Tijani El Harroudi, Souria Aissaoui, Noureddine Boukhatem
BACKGROUND: Genetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population. METHODS: We genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151 BC cases and 156 population-matched controls...
March 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29526315/identification-of-genetic-risk-factors-associated-with-ischaemic-stroke-in-young-mexican-patients
#14
M C Jiménez-González, D Santiago-Germán, E F Castillo-Henkel, J A Alvarado-Moreno, J Hernández-Juárez, A Leaños-Miranda, A Majluf-Cruz, I Isordia-Salas
INTRODUCTION: Numerous polymorphisms in candidate genes coding for haemostatic system proteins have been proposed as risk factors for thrombosis. METHODS: We performed a case-control study of consecutive ischaemic stroke survivors aged ≤ 45 years, treated at our neurology department from 2006 to 2014. Polymerase chain reaction-restriction fragment length polymorphism identified the following polymorphisms: Thr325Ile and Ala147Thr in TAFI, 4G/5G in PAI-1, PLA1/A2 in platelet glycoprotein IIb/IIIa, Glu298Asp in eNOS, and C677T in 5,10-MTHFR...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29511243/interaction-between-alcohol-consumption-and-methylenetetrahydrofolate-reductase-polymorphisms-in-thyroid-cancer-risk-national-cancer-center-cohort-in-korea
#15
Sarah Yang, Jeonghee Lee, Yoon Park, Eun Kyung Lee, Yul Hwangbo, Junsun Ryu, Joohon Sung, Jeongseon Kim
The effect of alcohol intake on thyroid cancer is unestablished, and its interaction effects with genetic susceptibility are unclear. In this case-control study, the relationship among alcohol intake, the methylenetetrahydrofolate reductase (MTHFR) gene, and thyroid cancer risk has been evaluated. In total, 642 cases and 642 controls of Korean origin were included, and the genetic variants C677T and A1298C of the MTHFR gene were analysed. The interactions between alcohol-consumption behaviour and genetic variants were analysed with a likelihood ratio test, wherein a multiplicative interaction term was added to a logistic regression model...
March 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29501539/contribution-of-mthfr-gene-variants-in-lupus-related-subclinical-atherosclerosis
#16
Maira Giannelou, Andrianos Nezos, Sofia Fragkioudaki, Dimitra Kasara, Kyriaki Maselou, Nikolaos Drakoulis, Dimitris Ioakeimidis, Haralampos M Moutsopoulos, Clio P Mavragani
OBJECTIVE: Elevated concentrations of homocysteine have been previously identified as an independent risk factor for subclinical atherosclerosis in patients with systemic lupus erythematosus (SLE). Given that heightened homocysteine levels are known to be strongly influenced by genetic factors, in the current study we investigated the contribution of high homocysteine levels as well as of functional polymorphisms of the gene encoding for the enzyme 5, 10- methylenetetrahydrofolate reductase (MTHFR) to atherosclerotic disease characterizing SLE patients...
March 6, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29465562/subacute-onset-leukodystrophy-and-visual-spatial-disorders-revealing-phenylketonuria-combined-with-homocysteinmia-in-adulthood-a-case-report
#17
Chunchen Wang, Jieying Li
RATIONALE: Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29459232/arsenic-methylation-capacity-in-relation-to-nutrient-intake-and-genetic-polymorphisms-in-one-carbon-metabolism
#18
Brenda Gamboa-Loira, César Hernández-Alcaraz, A Jay Gandolfi, Mariano E Cebrián, Ana Burguete-García, Angélica García-Martínez, Lizbeth López-Carrillo
BACKGROUND: Nutrients and genetic polymorphisms participating in one-carbon metabolism may explain interindividual differences in inorganic arsenic (iAs) methylation capacity, which in turn may account for variations in susceptibility to iAs-induced diseases. OBJECTIVES: 1) To evaluate the association between polymorphisms in five one-carbon metabolism genes (FOLH1 c.223 T > C, MTHFD1 c.1958 G > A, MTHFR c.665 C > T, MTR c.2756 A > G, and MTRR c...
July 2018: Environmental Research
https://www.readbyqxmd.com/read/29439678/correlation-between-global-methylation-level-of-peripheral-blood-leukocytes-and-serum-c-reactive-protein-level-modified-by-mthfr-polymorphism-a-cross-sectional-study
#19
Masanori Nojima, Motoki Iwasaki, Yoshio Kasuga, Shiro Yokoyama, Hiroshi Onuma, Hideki Nishimura, Ritsu Kusama, Teruhiko Yoshida, Shoichiro Tsugane
BACKGROUND: Chronic inflammatory conditions are associated with higher tumor incidence through epigenetic and genetic alterations. Here, we focused on an association between an inflammation marker, C-reactive-protein (CRP), and global DNA methylation levels of peripheral blood leukocytes. METHODS: The subjects were 384 healthy Japanese women enrolled as the control group of a case-control study for breast cancer conducted from 2001 to 2005. Global DNA methylation was quantified by Luminometric Methylation Assay (LUMA)...
February 13, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29428336/genetic-variations-of-mthfr-gene-and-their-association-with-preterm-birth-in-korean-women
#20
In Wook Hwang, Yun Dan Kang, Bit Na Kwon, Jun Ho Hong, Seung Hun Han, Jong Soo Kim, Jin Wan Park, Han Jun Jin
BACKGROUND AND OBJECTIVE: The MTHFR gene encodes the methylenetetrahydrofolate reductase known to be involved in the homocysteine-methionine pathway. It has been reported that the deficiency of MTHFR activity may cause hyperhomocysteinemia which results in adverse pregnancy outcomes. Previous studies reported a correlation between the MTHFR gene polymorphisms (677 T/C and 1298 A/C) and lower MTHFR activity and its association with preterm birth in various populations. Since these results were conflicting, we analyzed the genetic association of MTHFR gene 677 T/C and 1298 A/C polymorphisms with preterm birth in Korean women...
2017: Medicina
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