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https://www.readbyqxmd.com/read/27904604/evaluating-the-role-of-maternal-folic-acid-supplementation-in-modifying-the-effects-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-in-oral-cleft-children
#1
Asghar Ebadifar, Nazila Ameli, Hamid Reza KhorramKhorshid, Koorosh Kamali, Mehdi Salehi Zeinabadi
BACKGROUND: We studied the role of maternal folic acid supplementation in modifying the effects of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) gene polymorphisms in Iranian children with oral clefts. MATERIALS AND METHODS: Forty-seven newborn infants with orofacial cleft and their mothers were selected randomly. Mothers were matched regarding dietary folate intake. The genotyping on venous blood was carried out. Consistency between maternal and child genotypes was analyzed...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27902594/combined-genotype-and-haplotype-distributions-of-mthfr-c677t-and-a1298c-polymorphisms-a-cross-sectional-descriptive-study-of-13-473-chinese-adult-women
#2
Shujun Fan, Boyi Yang, Xueyuan Zhi, Yanxun Wang, Quanmei Zheng, Guifan Sun
Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are, independently and/or in combination, associated with many disorders. However, data on the combined genotype and haplotype distributions of the 2 polymorphisms in Chinese population were limited.We recruited 13,473 adult women from 9 Chinese provinces, collected buccal cell samples, and determined genotypes, to estimate the combined genotype and haplotype distributions of the MTHFR C677T and A1298C polymorphisms.In the total sample, the 6 common combined genotypes were CT/AA (29...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27888505/geographical-and-ethnic-distribution-of-mthfr-gene-polymorphisms-and-their-associations-with-diseases-among-chinese-population
#3
REVIEW
Boyi Yang, Shujun Fan, Xueyuan Zhi, Ruilan Xia, Yanxun Wang, Quanmei Zheng, Guifan Sun
Numerous studies have investigated the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and their associations with diseases in China. In this study we conducted a systematic review and meta-analysis of these studies (715 eligible studies in total).Results revealed that the frequencies of the MTHFR C677T and A1298C polymorphisms varied markedly in different areas and ethnicities, and even showed geographical gradients. The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (P<0...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27864592/evaluation-of-5-fluorouracil-degradation-rate-and-pharmacogenetic-profiling-to-predict-toxicity-following-adjuvant-capecitabine
#4
Michela Roberto, Adriana Romiti, Andrea Botticelli, Federica Mazzuca, Luana Lionetto, Giovanna Gentile, Ida Paris, Rosa Falcone, Maria Bassanelli, Francesca Romana Di Pietro, Concetta Elisa Onesti, Elisabetta Anselmi, Serena Macrini, Maurizio Simmaco, Paolo Marchetti
BACKGROUND: On account of the lack of predictive biomarkers of toxicity, we investigated whether polymorphisms of genes involved in fluoropyrimidine metabolism and 5-fluorouracil (5-FU) degradation rate were associated with outcomes of adjuvant capecitabine in patients with early stage gastrointestinal cancers. METHODS: Genotyping of DPYD GIVS14A, MTHFR C677T and A1298C SNPs were performed by pyro-sequencing technology. PCR analysis was used for genotyping TYMS-TSER...
November 18, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27845948/5-fluorouracil-degradation-rate-could-predict-toxicity-in-stages-ii-iii-colorectal-cancer-patients-undergoing-adjuvant-folfox
#5
Concetta E Onesti, Andrea Botticelli, Marco La Torre, Marina Borro, Giovanna Gentile, Adriana Romiti, Luana Lionetto, Antonella Petremolo, Mario Occhipinti, Michela Roberto, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
5-Fluorouracil is commonly used for gastrointestinal cancer treatment in an adjuvant setting; however, the toxicity can lead to a reduction, delay, or discontinuation of treatment. We retrospectively investigated the association between the 5-fluorouracil degradation rate (5-FUDR) and genetic polymorphisms of TSER, DPYD, and MHTFR with toxicity in colorectal cancer patients treated with adjuvant FOLFOX. Pretreatment 5-FUDR and MTHFR A1298T or C677T, TSER, and DPYD gene polymorphisms were characterized in stages II-III colorectal cancer patients...
November 11, 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27828634/methylenetetrahydrofolate-reductase-mthfr-c677t-polymorphism-in-psoriasis-in-southern-turkey
#6
Muzeyyen Izmirli, Bilge Bulbul Sen, Eminenur Rifaioglu, Bulent Gogebakan, Ozgur Aldemir, Tuba Sen, Ozlem Ekiz, Davut Alptekin
Background: Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with psoriasis have been demonstrated in many studies. The most frequently investigated genetic defect that plays a role in homocysteine metabolism is single point substitution (C to T) located on the 677th nucleotide of the methylenetetrahydrofolate reductase gene (MTHFR). Objective: In this study, we aimed to investigate methylenetetrahydrofolate C677T polymorphism in psoriasis patients in Turkey...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27823653/involvement-of-genetic-factors-and-lifestyle-on-the-occurrence-of-colorectal-and-gastric-cancer
#7
REVIEW
Olfa Baroudi, Amel Benammar-Elgaaied
Gastrointestinal cancers are diseases due to genetic and environmental factors. In this present work we are interested in the influence of environmental factors on the occurrence of gastrointestinal cancers in Tunisian population. We found that the MTHFR C677T polymorphism was associated with colorectal cancer (P<0.04) but not with gastric cancer. In addition, we have shown that alcohol is associated with an increased risk of colorectal cancer, but the consumption of cheese is protective. Furthermore, we studied tymidylate synthase gene involved in folate metabolism...
November 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27810229/cumulative-effect-of-the-plasma-total-homocysteine-related-genetic-variants-on-schizophrenia-risk
#8
Makoto Kinoshita, Shusuke Numata, Atsushi Tajima, Akira Nishi, Sho Muraki, Atsushi Tsuchiya, Hidehiro Umehara, Shin-Ya Watanabe, Issei Imoto, Tetsuro Ohmori
Previous studies suggest that elevated total homocysteine levels and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, which correlates with plasma total homocysteine levels, are risk factors for schizophrenia (SCZ). Recently, a large genome-wide association study (GWAS) of plasma total homocysteine levels in individuals of European ancestry identified many single-nucleotide polymorphisms (SNPs) (n=13,974). The primary purpose of this study was to examine the association between these plasma total homocysteine-related SNPs and SCZ in the Japanese population...
October 17, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27808369/molecular-thrombophilic-profile-in-mexican-patients-with-idiopathic-recurrent-pregnancy-loss
#9
J J López-Jiménez, Á Porras-Dorantes, C I Juárez-Vázquez, J E García-Ortiz, C A Fuentes-Chávez, I J Lara-Navarro, A R Jaloma-Cruz
Idiopathic recurrent pregnancy loss (IRPL) is defined by three or more consecutive miscarriages occurring before the twentieth week of gestation as a result of unidentified etiological factors. The results of previous studies have indicated that prothrombotic factors play a pathogenic role in early and late pregnancy. This study aimed to identify inherited prothrombotic and hypofibrinolytic risk factors in Mexican-Mestizo patients with IRPL. Fifty-six women with IRPL and 50 control women with at least two full-term pregnancies and no history of RPL were included in this case-control study...
October 5, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27805237/the-role-of-genetics-in-coronary-artery-bypass-surgery-patients-under-30-years-of-age
#10
Sabit Sarikaya, Ebuzer Aydin, Yucel Ozen, Tanil Ozer, Kaan Kirali, Murat Bulent Rabus
AIM: We undertook genetic assessment of coronary artery disease (CAD) in 20 patients aged 30 years or less undergoing coronary artery bypass grafting (CABG) surgery, to investigate the prognostic value of pre-defined genes. METHODS: Twenty patients, who underwent CABG surgery between December 2001 and May 2013, were retrospectively analysed to find out the role their genetic make-up played in their disease. We used three genetic diagnostic tests, the plasminogen activator inhibitor (PAI) -1 gene, the A1/A2 polymorphism of glycoprotein IIIa (GpIIIa) gene, and common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene...
October 21, 2016: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/27803768/polymorphisms-of-folate-metabolism-genes-in-patients-with-cirrhosis-and-hepatocellular-carcinoma
#11
Nathália Perpétua Peres, Ana Lívia Silva Galbiatti-Dias, Márcia Maria Urbanin Castanhole-Nunes, Renato Ferreira da Silva, Érika Cristina Pavarino, Eny Maria Goloni-Bertollo, Mariangela Torreglosa Ruiz-Cintra
AIM: To evaluated the association of the risk factors and polymorphisms in MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G genes. METHODS: Patients with cirrhosis (n = 116), hepatocellular carcinoma (HCC) (n = 71) and controls (n = 356) were included. Polymerase chain reaction followed by enzymatic digestion and allelic discrimination technique real-time PCR techniques were used for analysis. MINITAB-14.0 and SNPstats were utilized for statistical analysis. RESULTS: Showed that age ≥ 46 years (OR = 10...
October 18, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/27793164/gender-specific-interactions-of-mthfr-c677t-and-mtrr-a66g-polymorphisms-with-overweight-obesity-on-serum-lipid-levels-in-a-chinese-han-population
#12
Xueyuan Zhi, Boyi Yang, Shujun Fan, Yanxun Wang, Jian Wei, Quanmei Zheng, Guifan Sun
BACKGROUND: Little is known regarding the interactions of methylenetetrahydrofolate reductase (MTHFR) C677T and methionine synthase reductase (MTRR) A66G polymorphisms with overweight/obesity on serum lipid profiles. The aim of the current study was to explore interactions between the two polymorphisms and overweight/obesity on four common lipid levels in a Chinese Han population and further to evaluate whether these interactions exhibit gender-specificity. METHODS: A total of 2239 participants (750 females and 1489 males) were enrolled into this study...
October 28, 2016: Lipids in Health and Disease
https://www.readbyqxmd.com/read/27785408/association-of-the-mthfr-c677t-rs1801133-polymorphism-with-idiopathic-male-infertility-in-a-local-pakistani-population
#13
M Irfan, M Ismail, M Azhar Beg, A Shabbir, A Rashid Kayani, G Kaukab Raja
The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27783703/the-impact-of-methylenetetrahydrofolate-reductase-c677t-polymorphism-on-patients-undergoing-allogeneic-hematopoietic-stem-cell-transplantation-with-methotrexate-prophylaxis
#14
Ja Min Byun, Hea-Lim Kim, Dong-Yeop Shin, Youngil Koh, Sung-Soo Yoon, Moon-Woo Seong, Sung Sup Park, Jin Hee Kim, Yun-Gyoo Lee, Inho Kim
Pharmacogenomics can explain the inter-individual differences in response to drugs, including methotrexate (MTX) used for acute graft-versus-host disease (aGVHD) prophylaxis during hematopoietic stem cell transplantation (HSCT). In real-world practice, preplanned MTX dose is arbitrarily modified according to observed toxicity which can lead to unexpected and severe aGVHD development. We aimed to validate the influence of MTHFR C677T polymorphism on the outcomes of allogenic HSCT in a relatively under-represented homogenous Asian population...
2016: PloS One
https://www.readbyqxmd.com/read/27780089/the-relationship-between-mthfr-c677t-gene-polymorphism-and-essential-hypertension-in-a-sample-of-an-algerian-population-of-oran-city
#15
Asma Amrani-Midoun, Soto Romuald Kiando, Cyrielle Treard, Xavier Jeunemaitre, Nabila Bouatia-Naji
BACKGROUND: Many studies have investigated the role of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in essential hypertension (EH), but with conflicting results. AIM: To determine the eventual association between 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and hypertension in a sample of Algerian population from the Oran city. METHODS: A case-control study has been performed in 154 subjects including 82 hypertensives defined as subjects with elevated systolic blood pressure SBD≥140mmHg and or sustained diastolic blood pressure DBP≥90mmHg, and 72 normotensive subjects...
October 11, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27774577/retrospective-case-control-study-of-correlation-between-mthfr-gene-and-oscc-risk-in-north-india
#16
Hena Naqvi, Mohammad Kaleem Ahmad, Syed Rizwan Hussain, Shalini Gupta, Mohammad Waseem, Abbas Ali Mahdi
BACKGROUND: Oral squamous cell carcinoma (OSCC) occurrence appears to be the number one among all cancers in India. Folate is a methyl donor during DNA methylation, as it provides substrate for methylenetetrahydrofolate reductase (MTHFR) to convert 5,10-MTHF to 5-MTHF and subsequently metabolizes it to methionine. The purpose of this study was to identify MTHFR C677T gene polymorphism in patients with OSCC. MATERIALS AND METHODS: A total of 350 OSCC cases and 350 healthy controls participated in this study...
October 24, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27771938/uv-associated-decline-in-systemic-folate-implications-for-human-nutrigenetics-health-and-evolutionary-processes
#17
Mark Lucock, Emma Beckett, Charlotte Martin, Patrice Jones, John Furst, Zoe Yates, Nina G Jablonski, George Chaplin, Martin Veysey
OBJECTIVES: The purpose of this study was to examine whether UV exposure alters folate status according to C677T-MTHFR genotype, and to consider the relevance of this to human health and the evolutionary model of skin pigmentation. METHODS: Total Ozone Mapping Spectrometer (TOMS) satellite data were used to examine surface UV-irradiance, as a marker of UV exposure, in a large (n = 649) Australian cross-sectional study population. PCR/RFLP analysis was used to genotype C677T-MTHFR...
October 22, 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/27771518/the-effect-of-methylenetetrahydrofolate-reductase-polymorphisms-on-susceptibility-to-human-papilloma-virus-infection-and-cervical-cancer
#18
Mogge Hajiesmaeil, Farzaneh Tafvizi, Soheila Sarmadi
Cervical cancer is the third most common cancer among women worldwide. Several factors lead to cervical cancer, among which human papilloma virus (HPV) infection has a prominent role. Methylenetetrahydrofolate reductase (MTHFR) is crucial in folate metabolic pathway and plays an important role in DNA synthesis and DNA methylation. MTHFR gene polymorphisms, including C677T and A1298C, lead to reduced enzyme activity. This case-control study aims to illustrate the association between MTHFR gene polymorphisms and the risk of cervical cancer...
October 19, 2016: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/27766963/associations-of-recurrent-miscarriages-with-chromosomal-abnormalities-thrombophilia-allelic-polymorphisms-and-or-consanguinity-in-saudi-arabia
#19
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27760988/left-main-coronary-artery-thrombosis-with-distal-coronary-embolization-in-a-patient-with-methyltetrahydrofolate-reductase-c677t-mutation-presenting-with-stemi
#20
Daniele Iaccarino, Filippo Placentino, Alessandra Reggi, Stefano Tondi
No abstract text is available yet for this article.
December 2016: Minerva Cardioangiologica
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