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MTHFR GENE

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https://www.readbyqxmd.com/read/28646637/ts-gene-polymorphisms-correlate-with-susceptibility-to-acute-lymphocytic-leukemia-in-children
#1
Runyin Zou, Xiangling He, Yanpeng Wu, Xin Tian, Yalan You, Mincui Zheng, Wanli Li, Hui Zou, Hua Liu, Xiujuan Zhu, Chengguang Zhu
BACKGROUND Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. MATERIAL AND METHODS This case-control study included 79 ALL patients (case group) and 102 non-ALL patients (control group). Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. The χ² test was used to compare differences in MTHFR and TS polymorphisms (including genotypic and allelic distributions) between groups...
June 24, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#2
Fei Li, Dan-Dan Yin, Xiao-Lan Zhou, Jian-Mei Ma, Hong-Mei Guo, Li Meng
OBJECTIVE: To Study the effect of C677T and MTHFR gene polymorphism on side effects of HD-MTX in ALL children. METHODS: The gene polymorphism of C677T A303G and MTHFR C677T were detected by PCR in 98 ALL children from January 2014 to January 2016. The side effects during HD-MTX therapy were observed, and the relationship among GSTP1, MTHFR gene polymorphism and incidence of side effect of HD-MTX were analyzed. RESULTS: Among 98 ALL children, the gene variation was observed in 61 ALL children (62...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28627828/the-relationship-between-the-mthfr-c677t-genotypes-to-serum-anti-m%C3%A3-llerian-hormone-concentrations-and-in-vitro-fertilization-intracytoplasmic-sperm-injection-outcome
#3
Seyedeh Z Shahrokhi, Faranak Kazerouni, Firouzeh Ghaffari, Ali Rahimipour, Mir D Omrani, Arezoo Arabipoor, Ramin Lak, Elaheh T Ghane
BACKGROUND: The expression of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in human oocytes and preimplantation embryos suggests that the MTHFR gene is involved in folliculogenesis and female reproduction. Considering the importance of the MTHFR gene on female reproduction, the aim of this study was to evalu- ate the influence of MTHFR C677T polymorphism on ovarian marker reserve, particularly serum anti-Müllerian hormone (AMH) levels, and ovarian response as well as clinical pregnancy rates after in vitro fertilization (IVF)/ intracytoplasmic sperm injection (ICSI)...
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28617183/hypermethylated-cpg-sites-in-the-mtr-gene-promoter-in-preterm-placenta
#4
Vinita V Khot, Dilip K Yadav, Smeeta Shrestha, Lovejeet Kaur, Deepali P Sundrani, Preeti M Chavan-Gautam, Savita S Mehendale, Giriraj R Chandak, Sadhana R Joshi
AIM: Altered maternal one-carbon metabolism influences placental DNA methylation patterns and 'programs' the fetus for noncommunicable diseases in adult life. EXPERIMENTAL PROCEDURES: Levels of plasma folate, vitamin B12, homocysteine, mRNA and protein levels of MTHFR and MTR enzymes in placenta were compared among women delivering preterm (n = 83) and term (n = 75). MTR promoter CpG methylation was undertaken. RESULTS: MTHFR and MTR mRNA levels were higher while protein levels were lower, and MTR CpG sites were hypermethylated in the preterm group, as compared with the term group...
June 15, 2017: Epigenomics
https://www.readbyqxmd.com/read/28607799/major-polymorphisms-of-genes-involved-in-homocysteine-metabolism-in-malaria-patients-in-ouagadougou-burkina-faso
#5
Noé Yameogo, Bapio Valérie Elvira Jean Télesphore Bazie, Abdoul Karim Ouattara, Pouiré Yameogo, Tegwinde Rebeca Compaore, Dorcas Obiri-Yeboah, Florencia Wenkuuni Djigma, Simplice Damintoti Karou, Jacques Simpore
This study analyzed the four main polymorphisms of the genes in homocysteine metabolism in malaria patients. Forty-two randomly selected subjects, diagnosed positive for Plasmodium falciparum, were included. The four genotypes were detected by real-time PCR using the MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, and MTRR 66A>G detection kit (Sacace Biotechnologies REF: T01002-96-S). The results revealed frequencies of 90% 677CC, 10% 677CT, and 00% 677TT for MTHFR C677T; 78.6% 1298AA, 19% 1298AC, and 2...
2017: Malaria Research and Treatment
https://www.readbyqxmd.com/read/28603947/thrombophilic-gene-polymorphisms-and-recurrent-pregnancy-loss-in-greek-women
#6
M Chatzidimitriou, D Chatzidimitriou, M Mavridou, C Anetakis, F Chatzopoulou, T Lialiaris, S Mitka
INTRODUCTION: Recurrent pregnancy loss (RPL) is a multifactorial disorder. The aim of this study was the detection of various genetic polymorphisms and their correlation to RPL, in Greek women. METHODS: The impact of 12 thrombophilic polymorphisms was evaluated, among 48 Greek women with a history of RPL, vs 27 healthy parous women. Multiplex PCR and in situ hybridization on nitrocellulose films were performed, to investigate 12 genetic polymorphisms previously reported as risk factors for RPL...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28591039/genetic-polymorphism-of-methylenetetrahydrofolate-reductase-as-a-potential-risk-factor-for-congenital-heart-disease-a-meta-analysis-in-chinese-pediatric-population
#7
Ye Yuan, Xia Yu, Fenglan Niu, Na Lu
BACKGROUND: A meta-analysis of polymorphism C677T (rs1801133) of the methylene tetrahydrofolate reductase (MTHFR) gene as a potential risk factor for congenital heart disease (CHD) in Chinese paediatric population was studied in view of the previously reported controversial results. METHODS: We searched literature including PubMed, Embase, Cochrane Library, CNKI, Wanfang, and VIP databases that resulted in the identification of a total of 21 separate studies with 6414 subjects that met the inclusion criteria in the Chinese population...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28578513/the-role-of-fv-1691g-a-fii-20210g-a-mutations-and-mthfr-677c-t-1298a-c-and-103g-t-fxiii-gene-polymorphisms-in-pathogenesis-of-intraventricular-hemorrhage-in-infants-born-before-32-weeks-of-gestation
#8
Dawid Szpecht, Janusz Gadzinowski, Agnieszka Seremak-Mrozikiewicz, Grażyna Kurzawińska, Krzysztof Drews, Marta Szymankiewicz
BACKGROUND: Congenital thrombophilia is associated with an increased intraventricular hemorrhage (IVH) risk among newborns, but it may also play a protective role. The role of genetic polymorphisms involved in the coagulation pathway of IVH pathogenesis is probably a consequence of an increased risk of thrombosis in the fine blood vessels in the germinal matrix region. MATERIAL AND METHODS: The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities...
June 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28574380/mthfr-gene-c677t-polymorphism-and-levels-of-dna-methyltrasferases-in-subclinical-hypothyroidism
#9
T Kvaratskhelia, E Kvaratskhelia, K Kankava, E Abzianidze
The aim of our study was to investigate the link between MTHFR gene C677T polymorphism and DNMTs levels in patients with Subclinical Hypothyroidism (SCH). In this study 19 adult patients with subclinical hypothyroidism and 19 healthy controls (mean age 31±5.5 and 33±5.1 years respectively) were recruited. All patients were diagnosed based on serum levels of TSH, FT4, anti-TG and anti-TPO antibodies. Written informed consents were obtained from all study subjects. Genomic DNA was extracted using Quick-DNA Universal Kit (Zymo Research, USA)...
April 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28572465/relationship-between-polymorphisms-in-methotrexate-pathway-genes-and-outcome-of-methotrexate-treatment-in-a-cohort-of-119-patients-with-juvenile-idiopathic-arthritis
#10
Mojca Zajc Avramovič, Vita Dolžan, Nataša Toplak, Meta Accetto, Lara Lusa, Tadej Avčin
OBJECTIVE: To identify clinical and pharmacogenetic determinants of efficacy and toxicity of methotrexate (MTX) in juvenile idiopathic arthritis (JIA) over time. METHODS: A cohort of 119 consecutive patients with JIA treated with MTX was reviewed. The Juvenile Arthritis Disease Activity Score including 71 joints was used to measure disease activity. Nonresponders were patients who did not reach a minimum of 30% improvement after 6 months of treatment or were switched to biologic drugs in the first 6 months because of inefficacy...
June 1, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28566152/sonographic-evaluation-of-atherosclerosis-burden-in-carotid-arteries-of-ischemic-stroke-patients-and-its-relation-to-paraoxonase-1-and-2-mthfr-and-at1r-genetic-variants
#11
Carmen Rosa Hernández-Socorro, Francisco Javier Rodríguez-Esparragón, Jennifer Celli, Juan Carlos López-Fernández
OBJECTIVE: Common variants of the Paraoxonase (PON), 5-Methyl-Tetrahydrofolate-Reductase (MTHFR) and Angiotensin-II receptor 1 (AT1R) genes have been associated with ischemic stroke (IS) risk. Moreover, carotid atherosclerosis is a common cause of IS. The aim of this study is to explore whether variants in these genes associate with the severity of ultrasonographic determined atherosclerosis assessed in carotid arteries. PATIENTS AND METHODS: Etiologic subtype of cerebral ischemia was determined according to the TOAST classification...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28553317/meta-analysis-of-human-alzgene-database-benefits-and-limitations-of-using-c-elegans-for-the-study-of-alzheimer-s-disease-and-co-morbid-conditions
#12
Behrad Vahdati Nia, Christine Kang, Michelle G Tran, Deborah Lee, Shin Murakami
Human genome-wide association studies (GWAS) and linkage studies have identified 695 genes associated with Alzheimer's disease (AD), the vast majority of which are associated with late-onset AD. Although orthologs of these AD genes have been studied in several model species, orthologs in the nematode, Caenorhabditis elegans, remain incompletely identified, with orthologs to only 17 AD-related genes identified in the C. elegans database, WormBase. Therefore, we performed a comprehensive search for additional C...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28544525/lack-of-association-between-mthfr-a1298c-polymorphism-and-outcome-of-methotrexate-treatment-in-rheumatoid-arthritis-patients-evidence-from-a-systematic-review-and-meta-analysis
#13
Hongqiong Fan, Yanhui Li, Li Zhang, Yuying Li, Wei Li
OBJECTIVES: The aim of this study was to evaluate the association of methylene tetrahydrofolate reductase (MTHFR) gene polymorphism A1298C and methotrexate (MTX) outcome in rheumatoid arthritis (RA) patients. METHODS: We conducted a meta-analysis of the relevant published literature through to May 2016. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using fixed- and random-effect models. RESULTS: A total of 1325 cases (10 studies) of MTX efficacy and 2777 cases (18 studies) of MTX toxicity in RA patients were analyzed...
May 25, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28544455/suboptimal-maternal-and-cord-plasma-pyridoxal-5-phosphate-concentrations-are-uncommon-in-a-cohort-of-canadian-pregnant-women-and-newborn-infants
#14
Lesley Plumptre, Shannon P Masih, Kyoung-Jin Sohn, Denise Kim, Carly E Visentin, Anna Ly, Howard Berger, Ruth Croxford, Deborah L O'Connor, Young-In Kim
Vitamin B6 is important in fetal development, but little is known of the vitamin B6 status of pregnant women and newborns in North America and potential modifying factors. This prospective study determined maternal and cord plasma concentrations of pyridoxal 5' phosphate (PLP; an indicator of vitamin B6 status) in a convenience sample of 368 Canadian pregnant women and their newborns. The association of maternal intake of vitamin B6 and fetal genetic variants with cord plasma PLP and homocysteine concentrations was also examined...
May 24, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/28543752/mthfr-gene-c677t-and-a1298c-variants-are-associated-with-fmf-risk-in-a-turkish-cohort
#15
Ayse Feyda Nursal, Süheyla Kaya, Ozlem Sezer, Nevin Karakus, Serbulent Yigit
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. MATERIAL-METHODS: This case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods...
May 22, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28540283/associations-of-mthfr-c677t-polymorphism-with-insulin-resistance-results-of-nurse-study-nursing-unacquainted-related-stress-etiologies
#16
Motahareh Kheradmand, Zhila Maghbooli, Sedigheh Salemi, Mahnaz Sanjari
BACKGROUND: The insulin resistance syndrome is one of the major contributors of metabolic syndrome, diabetes Type 2 and atherosclerotic cardiovascular disease. A common mutation (677C to T; Ala to Val) in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased specific MTHFR activity and elevation of the homocysteine. The aim of this study is investigation of association between MTHFR 677C > T polymorphism with insulin resistance by using HOMA (Homeostasis Model Assessment) index in nurses who are potentially prone to develop insulin resistance because of unfavorable effects of shift work...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28534241/a-genetic-variant-in-fign-gene-reduces-the-risk-of-congenital-heart-disease-in-han-chinese-populations
#17
Dan Wang, Maoping Chu, Feng Wang, Aihua Zhou, Miaohua Ruan, Yiming Chen
Congenital heart disease (CHD) is one of the most common birth anomalies worldwide. Folate deficiency is an independent risk factor for CHD. Genome-wide association studies (GWAS) revealed that human folate level could be significantly influenced by fidgetin (FIGN), methylenetetrahydrofolate reductase (MTHFR), prickle homolog 2 (PRICKLE2), synaptotagmin 9 (SYT9), gamma-aminobutyric acid B receptor 2 (GABBR2), and alkaline phosphatase (ALPL) genes. The association between the above-mentioned six variants and CHD was examined in the two independent case-control studies in a total of 868 CHD patients and 931 healthy controls...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28514598/the-communal-relation-of-mthfr-mtr-ace-gene-polymorphisms-and-hyperhomocysteinemia-as-conceivable-risk-of-coronary-artery-disease
#18
Rizwan Masud, Haider Zaigham Baqai
Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases n = 254, controls n = 250, respectively). Tetra primer allele refractory mutation system (ARMS) PCR was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905)...
May 17, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28507283/mir-149-compromises-the-reactions-of-liver-cells-to-fatty-acid-via-its-polymorphism-and-increases-non-alcoholic-fatty-liver-disease-nafld-risk-by-targeting-methylene-tetrahydrofolate-reductase-mthfr
#19
Xianchao An, Zonglin Yang, Zhengzhuang An
BACKGROUND Non-alcoholic fatty liver disease (NAFLD) is a worldwide health problem, and microRNA (miRNA) has been reported to be involved in NAFLD. The objective of our study was to explore the effect of polymorphism in miR-149 on the pathogenesis of NAFLD. MATERIAL AND METHODS Real-time PCR was performed to explore the effect of long-chain fatty acid (FFA) on the level of miR-149 and methylene tetrahydrofolate reductase (MTHFR). Then in-silicon analysis and luciferase assay were investigated to verify MTHFR was the target gene of miR-149...
May 16, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28500484/association-of-folate-metabolism-gene-polymorphisms-and-haplotype-combination-with-pulmonary-embolism-risk-in-chinese-han-population
#20
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
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