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https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#1
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
September 9, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28887233/methotrexate-pharmacogenetics-in-uruguayan-adults-with-hematological-malignant-diseases
#2
Andrea Giletti, Marcelo Vital, Mariana Lorenzo, Patricia Cardozo, Gabriel Borelli, Raúl Gabus, Lem Martínez, Lilian Díaz, Rodrigo Assar, María Noel Rodriguez, Patricia Esperón
BACKGROUND: Individual variability is among the causes of toxicity and interruption of treatment in acute lymphoblastic leukemia (ALL) and severe non-Hodgkin lymphoma (NHL) patients under protocols including Methotrexate (MTX): 2,4-diamino-N10-methyl propyl-glutamic acid. METHODS: 41 Uruguayan patients were recruited. Gene polymorphisms involved in MTX pathway were analyzed and their association with treatment toxicities and outcome was evaluated. RESULTS: Genotype distribution and allele frequency were determined for SLC19A1 G80A, MTHFR C677T and A1298C, TYMS 28bp copy number variation, SLCO1B1 T521C, DHFR C-1610G/T, DHFR C-680A, DHFR A-317G and DHFR 19bp indel...
September 5, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28876333/folate-vitamin-b12-homocysteine-and-polymorphisms-in-folate-metabolizing-genes-in-children-with-congenital-heart-disease-and-their-mothers
#3
K E Elizabeth, S L Praveen, N R Preethi, V T Jissa, M R Pillai
BACKGROUND/OBJECTIVES: The objective of the study was to assess the role of variations in serum folate, vitamin B12, homocysteine and the presence of genetic polymorphisms as risk factors for congenital heart disease (CHD) in children. SUBJECTS/METHODS: A total of 32 children with CHD, and their mothers and 32 normal children and their mothers formed the study and control groups, respectively. Serum folate, vitamin B12 and homocysteine as well as genetic polymorphisms MTHFR C677→︀T, MTHFR A1298→︀C, MTR A2756→︀G and MTRR A66→︀G were assessed...
September 6, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28819944/contribution-of-inherited-thrombophilia-to-recurrent-miscarriage-in-the-polish-population
#4
Hubert Wolski, Magdalena Barlik, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska, Marcin Ożarowski, Zdzisław Łowicki, Agnieszka Seremak-Mrozikiewicz
INTRODUCTION: The aim of the study was to evaluate the contribution of genetic variants determining inherited thrombophilia to recurrent miscarriage (RM) in the Polish population. The following polymorphisms were analyzed: 1691G>A, 1328T>C of coagulation factor V, 20210G>A of coagulation factor II, R353Q (11496G>A) of coagulation factor VII, 667C>T, 1298A>C, 1793G>A of MTHFR. MATERIAL AND METHODS: A total of 359 women with ≥ 2 subsequent recurrent miscarriages (303 < 13 weeks of gestation (w...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28814189/association-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-with-recurrent-pregnancy-loss-in-syrian-women
#5
Walid Al-Achkar, Abdulsamad Wafa, Samer Ammar, Faten Moassass, Rami A Jarjour
C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism...
September 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28760411/polymorphisms-of-mthfr-enos-ace-agt-apoe-pon1-pde4d-and-ischemic-stroke-meta-analysis
#6
Loo Keat Wei, Anthony Au, Saras Menon, Lyn R Griffiths, Cheah Wee Kooi, Looi Irene, Jiangyang Zhao, Chaeyoung Lee, Avdonina Maria Alekseevna, Muhammad Radzi Abdul Hassan, Zariah Abdul Aziz
INTRODUCTION: The association between ischemic stroke and genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR; 677C>T and 1298A>C), endothelial nitric oxide synthase (eNOS; -786T>C, +894G>T, and variable number tandem repeat [VNTR]), phosphodiesterase 4D (PDE4D; SNPs 83 and 87), angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) 235M>T, paraoxonase 1 (PON1) 192Q>R, and apolipoprotein E (ApoE) ε2ε3ε4 remains inconclusive. Therefore, this updated meta-analysis aimed to clarify the presumed influence of genetic polymorphisms on ischemic stroke by meta-analyzing the comprehensive coverage of all individual association studies...
July 28, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28758112/parental-genetic-variants-mthfr-677c-t-and-mtrr-66a-g-associated-differently-with-fetal-congenital-heart-defect
#7
Qian-Nan Guo, Hong-Dan Wang, Li-Zhen Tie, Tao Li, Hai Xiao, Jian-Gang Long, Shi-Xiu Liao
BACKGROUND: Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28733526/investigation-of-methylenetetrahydrofolate-reductase-tagging-polymorphisms-with-colorectal-cancer-in-chinese-han-population
#8
Sheng Zhang, Shuchen Chen, Yu Chen, Mingqiang Kang, Chao Liu, Hao Qiu, Yafeng Wang, Weifeng Tang
The aim of this case-control study was to assess the relationship between the tagging polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene and the susceptibility to colorectal cancer (CRC) in a Chinese Han population. A custom-by-design 48-Plex SNPscan Kit was used to determine the genotypes of MTHFR rs3753584 T>C, rs9651118 T>C, rs1801133 G>A, rs4846048 A>G and rs4845882 G>A polymorphisms in 387 CRC patients and 1,536 non-cancer controls. The results revealed that MTHFR rs1801133 G>A polymorphism was associated with a decreased risk of overall CRC...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28696419/associations-between-the-c677t-and-a1298c-polymorphisms-of-mthfr-and-the-toxicity-of-methotrexate-in-childhood-malignancies-a-meta-analysis
#9
C Zhu, Y W Liu, S Z Wang, X L Li, X L Nie, X T Yu, L B Zhao, X L Wang
As a common chemotherapy drug, methotrexate (MTX) has achieved remarkable clinical success. However, high inter-individual variability and unpredictable toxicity continue to challenge its use in clinical practices. Some studies suggest this variation is associated with a methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, but results remain unclear. In this meta-analysis, we include 14 studies that focus on MTHFR C677T and A1298C polymorphisms in pediatric patients with malignancy. We found significant associations of the MTHFR C677T polymorphism with hepatotoxicity (grade ⩾2; CC vs CT/TT: risk ratio (RR): 0...
July 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28685147/genotyping-the-high-altitude-mestizo-ecuadorian-population-affected-with-prostate-cancer
#10
REVIEW
Andrés López-Cortés, Alejandro Cabrera-Andrade, Carolina Salazar-Ruales, Ana Karina Zambrano, Santiago Guerrero, Patricia Guevara, Paola E Leone, César Paz-Y-Miño
Prostate cancer (PC) is the second most commonly diagnosed type of cancer in males with 1,114,072 new cases in 2015. The MTHFR enzyme acts in the folate metabolism, which is essential in methylation and synthesis of nucleic acids. MTHFR C677T alters homocysteine levels and folate assimilation associated with DNA damage. Androgens play essential roles in prostate growth. The SRD5A2 enzyme metabolizes testosterone and the V89L polymorphism reduces in vivo SRD5A2 activity. The androgen receptor gene codes for a three-domain protein that contains two polymorphic trinucleotide repeats (CAG, GGC)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#11
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/28607799/major-polymorphisms-of-genes-involved-in-homocysteine-metabolism-in-malaria-patients-in-ouagadougou-burkina-faso
#12
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
#13
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/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
#14
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...
July 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
#15
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/28556887/comt-val158met-and-mthfr-c677t-moderate-risk-of-schizophrenia-in-response-to-childhood-adversity
#16
J-C Debost, M Debost, J Grove, O Mors, D M Hougaard, A D Børglum, P B Mortensen, L Petersen
OBJECTIVE: Mesolimbic dopamine sensitization has been hypothesized to be a mediating factor of childhood adversity (CA) on schizophrenia risk. Activity of catechol-O-methyltransferase (COMT) Val158Met increases mesolimbic dopamine signaling and may be further regulated by methylenetetrahydrofolate reductase (MTHFR) C677T. This study investigates the three-way interaction between CA, COMT, and MTHFR. METHODS: We conducted a nested case-control study on individuals born after 1981, linking population-based registers to study the three-way interaction...
May 29, 2017: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/28550262/increased-plasma-homocysteine-level-is%C3%A2-associated-with-executive-dysfunction-in%C3%A2-type-2-diabetic-patients-with-mild-cognitive-impairment
#17
Sai Tian, Jing Han, Rong Huang, Jie Sun, Rongrong Cai, Yanjue Shen, Shaohua Wang
BACKGROUND: Homocysteine (Hcy) is involved in the pathogenesis of type 2 diabetes mellitus (T2DM) and Alzheimer's disease. OBJECTIVE: We aimed to investigate the role of Hcy in T2DM patients with mild cognitive impairment (MCI), and to determine whether methylene tetrahydrofolate reductase (MTHFR) C677T or cystathionine beta-synthase (CBS) 844ins68 polymorphism is related to T2DM-associated MCI. METHODS: We recruited 285 T2DM patients and divided them into two groups, 140 patients with MCI, and 145 healthy-cognition controls, on the basis of Montreal Cognitive Assessment (MoCA) scores...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28543752/mthfr-gene-c677t-and-a1298c-variants-are-associated-with-fmf-risk-in-a-turkish-cohort
#18
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/28500484/association-of-folate-metabolism-gene-polymorphisms-and-haplotype-combination-with-pulmonary-embolism-risk-in-chinese-han-population
#19
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
https://www.readbyqxmd.com/read/28488549/prevalence-of-1691g-a-f5-20210g-a-f2-and-677c-t-mthfr-polymorphisms-in-bosnian-women-with-pregnancy-loss
#20
Emir Mahmutbegovic, Damir Marjanovic, Edin Medjedovic, Nevena Mahmutbegovic, Serkan Dogan, Amina Valjevac, Ewa Czerska, Anna Pawińska-Matecka, Agnieszka Madlani, Grazyna Adler
The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs1801133), F2 G>A (rs1800595) and MTHFR C>T (rs1801020) polymorphisms in Bosnian women...
May 10, 2017: Bosnian Journal of Basic Medical Sciences
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