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MTHFR C677T

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https://www.readbyqxmd.com/read/28938654/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-the-risks-of-polycystic-ovary-syndrome-an-updated-meta-analysis-of-14-studies
#1
Lihong Wang, Wenting Xu, Caihong Wang, Mengyu Tang, Yujia Zhou
Some studies have reported an association between the Methylenetetrahydrofolate reductase (MTHFR) C667T genetic variant and risk of polycystic ovary syndrome (PCOS), although the results remain controversial. A systematic search was conducted on PubMed, Web of Science, EMBASE, Ovid, Chinese National Knowledge Databases and WanFang databases with relevant keywords. Fourteen studies of sixteen distinct populations involving 1478 PCOS cases and used to conduct a meta-analysis. The T allele was not significantly associated with increased risk of PCOS [OR: 1...
August 29, 2017: Oncotarget
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
#2
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
#3
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/28847029/prevalence-of-the-mthfr-c677t-mutation-in-fertile-and-infertile-women
#4
Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi
Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013...
August 28, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28842818/association-between-the-mthfr-c677t-isoform-and-structure-of-sperm-dna
#5
Dominique Cornet, Marc Cohen, Arthur Clement, Edouard Amar, Laetitia Fournols, Patrice Clement, Paul Neveux, Yves Ménézo
PURPOSE: The aim of this study is to evaluate whether the MTHFR contribution to male decreased fertility can be attributable to anomalies in sperm nucleus DNA structure in relation to defective methylation. METHODS: The presence of MTHFR C677T, contributing at most for male infertility, was determined from a venous blood sample, using real-time polymerase chain reaction (PCR). Sperm DNA fragmentation (SDF) and sperm nucleus decondensation index (SDI) measurements were performed using acridine orange and flow cytometry...
August 25, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28814189/association-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-with-recurrent-pregnancy-loss-in-syrian-women
#6
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/28811683/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-risk-for-male-infertility-in-asian-population
#7
Vandana Rai, Pradeep Kumar
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28776552/homocysteine-a-potential-common-route-for-cardiovascular-risk-and-dna-methylation-in-psoriasis
#8
REVIEW
Wen-Ming Wang, Hong-Zhong Jin
OBJECTIVE: Homocysteine is a sulfur-containing amino acid with potential clinical significance. Abnormal homocysteine levels have been found in patients with psoriasis. This review summarizes the possible correlations among homocysteine, cardiovascular risk, and DNA methylation in psoriasis. DATA SOURCES: We retrieved the articles published in English from the PubMed database up to January 2017, using the keywords including "psoriasis," "homocysteine," "cardiovascular risk," "DNA methylation," "methylenetetrahydrofolate reductase," "MTHFR," and "MTHFR C677T...
August 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28747156/influence-of-chemotherapeutic-drug-related-gene-polymorphisms-on-toxicity-and-survival-of-early-breast-cancer-patients-receiving-adjuvant-chemotherapy
#9
Vienna Ludovini, Cinzia Antognelli, Antonio Rulli, Jennifer Foglietta, Lorenza Pistola, Rulli Eliana, Irene Floriani, Giuseppe Nocentini, Francesca Romana Tofanetti, Simonetta Piattoni, Elisa Minenza, Vincenzo Nicola Talesa, Angelo Sidoni, Maurizio Tonato, Lucio Crinò, Stefania Gori
BACKGROUND: We investigated whether GSTT1 ("null" allele), GSTM1 ("null"allele), GSTP1 (A313G), RFC1 (G80A), MTHFR (C677T), TS (2R/3R) polymorphisms were associated with toxicity and survival in patients with early breast cancer (EBC) treated with adjuvant chemotherapy (CT). METHODS: This prospective trial included patients with stage I-III BC subjected to CT with CMF or FEC regimens. PCR-RFLP was performed for MTHFR, RFC1 and GSTP1, while PCR for TS, GSTT1 and GSTM1 genes...
July 26, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28734273/association-between-thrombophilic-genes-polymorphisms-and-recurrent-pregnancy-loss-susceptibility-in-the-iranian-population-a-systematic-review-and-meta-analysis
#10
Mahdieh Kamali, Sedigheh Hantoushzadeh, Sedigheh Borna, Hossein Neamatzadeh, Mahta Mazaheri, Mahmood Noori-Shadkam, Fatemeh Haghighi
Background: Studies have indicated that thrombophilic genes polymorphisms are associated with recurrent pregnancy loss (RPL) in the Iranian population. However, the results from these studies remained inconsistent and inconclusive. The aim of this systematic review and meta-analysis was to evaluate the precise association between thrombophilic genes polymorphisms (MTHFR C677T, MTHFR A1298C, Prothrombin G20210A, FVL G1691A, and PAI-1 4G/5G) and RPL risk in the Iranian population. Method: Electronic databases of PubMed, Web of Science, Google Scholar, and ISC were searched for eligible articles published up to April 1, 2017...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28729765/meta-analysis-study-to-evaluate-the-association-of-mthfr-c677t-polymorphism-with-risk-of-ischemic-stroke
#11
P A Abhinand, M Manikandan, R Mahalakshmi, P K Ragunath
Ischemic stroke is a condition characterized by reduced blood supply to part of the brain, initiating the ischemic cascade, leading to dysfunction of the brain tissue in that area. It is one of the leading causes of death and disability and is estimated to cause around 5.7 million deaths worldwide. Methyl tetra hydro-folate reductase (MTHFR) is a rate limiting enzyme in the methyl cycle which catalyzes the only biochemical reaction which produces 5, Methyl tetra hydro folate, the co-substrate for the re-methylation of homocystiene to produce methionine...
2017: Bioinformation
https://www.readbyqxmd.com/read/28709390/elevated-homocysteine-in-human-abdominal-aortic-aneurysmal-tissues
#12
Crystal Yin Tung Chan, Stephen Wing Keung Cheng
An abnormally high level of homocysteine (Hcy) has been consistently observed in the blood of abdominal aortic aneurysm (AAA) patients. However, the expression of Hcy in human AAA tissues has not been investigated. In this study, the expression of Hcy in aneurysmal tissues from AAA patients ( n=30) was compared with non-aneurysmal tissues from organ donors ( n=31) by dot blotting and immunohistochemistry. A significantly higher expression of Hcy was observed in AAA than control tissues ( p<0.001). Furthermore, the associations of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, detected by polymerase chain reaction-restriction fragment length polymorphism, with both AAA and tissue Hcy expression were evaluated...
July 1, 2017: Vascular Medicine
https://www.readbyqxmd.com/read/28702146/are-polymorphisms-in-mtrr-a66g-and-mthfr-c677t-genes-associated-with-congenital-heart-diseases-in-iranian-population
#13
Noormohammad Noori, Ebrahim Miri-Moghaddam, Asieh Dejkam, Yasman Garmie, Ali Bazi
BACKGROUND: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively, and CHDs in Iranian patients. METHODS: We enrolled 74 patients with ventricular septal defect (VSD) and 79 with tetralogy of fallot (TOF) along with 147 healthy controls...
2017: Caspian Journal of Internal Medicine
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
#14
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/28689805/the-importance-of-folate-vitamins-b6-and-b12-for-the-lowering-of-homocysteine-concentrations-for-patients-with-recurrent-pregnancy-loss-and-mthfr-mutations
#15
Danielius Serapinas, Evelina Boreikaite, Agne Bartkeviciute, Rita Bandzeviciene, Mindaugas Silkunas, Daiva Bartkeviciene
In patients with MTHFR (methylenetetrahydrofolate reductase) mutations and hyperhomocysteinemia, recurrent pregnancy loss is a frequent feature. The aim of the study was to evaluate the impact of folic acid, vitamins B6 and B12 supplementation for the lowering of total homocysteine concentrations and pregnancy. 16 patients who had had 3 or more miscarriages and MTHFR mutations were used in the study. They received methylfolate (5mg/day), vitamin B6 (50mg/day) and vitamin B12 (1mg/week). Supplementation induced a decrease in homocysteine from 19...
September 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28689750/characteristics-and-long-term-prognosis-of-patients-%C3%A2-35-years-of-age-with-st-segment-elevation-myocardial-infarction-and-normal-or-near-normal-coronary-arteries
#16
MULTICENTER STUDY
Loukianos S Rallidis, Argyri Gialeraki, Andreas S Triantafyllis, Georgios Tsirebolos, Georgios Liakos, Paraskevi Moutsatsou, Efstathios Iliodromitis
There are scarce data regarding risk factors and prognosis of patients with premature ST segment elevation myocardial infarction (STEMI) and "normal or near normal" coronary arteries (N/NNCAs). We compared the characteristics and long-term prognosis of patients with premature STEMI and N/NNCAs with their counterparts with significant coronary artery disease (CAD). We recruited 330 patients who had STEMI ≤35 years of age and 167 age- and gender-matched controls. All patients underwent coronary angiography...
September 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28685147/genotyping-the-high-altitude-mestizo-ecuadorian-population-affected-with-prostate-cancer
#17
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/28646637/ts-gene-polymorphisms-correlate-with-susceptibility-to-acute-lymphocytic-leukemia-in-children
#18
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
#19
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/28636541/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-the-risks-of-polycystic-ovary-syndrome-an-updated-meta-analysis-of-14-studies
#20
Lihong Wang, Wenting Xu, Caihong Wang, Mengyu Tang, Yujia Zhou
Some studies have reported an association between the Methylenetetrahydrofolate reductase (MTHFR) C667T genetic variant and risk of polycystic ovary syndrome (PCOS), although the results remain controversial. A systematic search was conducted on PubMed, Web of Science, EMBASE, Ovid, Chinese National Knowledge Databases and WanFang databases with relevant keywords. Fourteen studies of sixteen distinct populations involving 1478 PCOS cases and used to conduct a meta-analysis. The T allele was not significantly associated with increased risk of PCOS [OR: 1...
June 14, 2017: Oncotarget
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