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I O Oliveira, L P Silva, M C Borges, O M Cruz, J W Tessmann, J V S Motta, F K Seixas, B L Horta, D P Gigante
BACKGROUND/OBJECTIVES: Homocysteine (Hcy) is a key intermediate in methionine metabolism. A high plasma concentration of Hcy is an independent risk factor for cardiovascular diseases among other determinants. In this study, we aimed to investigate the interactions between methylenetetrahydrofolate reductase enzyme gene (MTHFR) polymorphisms and lifestyle variables (smoking, alcohol intake and physical activity) on Hcy concentrations in a young Brazilian population. SUBJECTS/METHODS: The study population comprised 3803 individuals from the Pelotas Birth Cohort, aged 22-23 years...
October 19, 2016: European Journal of Clinical Nutrition
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
Wen-Xing Li, Wei Li, Jia-Qian Cao, Haiyue Yan, Yuanyuan Sun, Hong Zhang, Qiang Zhang, Ling Tang, Manman Wang, Jing-Fei Huang, Dahai Liu
Alanine aminotransferase (ALT), aspartate transaminase (AST), and glutamyl transpeptidase (GGT) were three key enzymes in the hepatic metabolism. This study aimed to investigate the effect of homocysteine (Hcy) metabolism gene polymorphisms and serum Hcy and folate level on the hepatic functions in a Chinese hypertensive population. A representative sample with 480 subjects aged 28-75 was enrolled in 2005.9-2005.12 from six hospitals in different Chinese regions. Serum ALT, AST and GGT were measured by using an automatic biochemistry analyzer...
2016: Journal of Nutritional Science and Vitaminology
L Yang, X W Wang, L P Zhu, H L Wang, B Wang, T Wu, Q Zhao, D L X T JinSiHan, X Y Wang
Activity of methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, is influenced by mutations in the corresponding gene, contributing to a decrease in 5,10-MTHF. Due to such polymorphisms, individuals differ in MTHFR enzyme activity and plasma folate levels. We investigated the relationship between two common MTHFR polymorphisms (C677T and A1298C) and breast cancer (BC) chemotherapy response. From February 2013 to January 2016, 148 advanced BC patients at the Center Hospital of Cangzhou were enrolled and treated with six different chemotherapy regimens...
September 23, 2016: Genetics and Molecular Research: GMR
Maryam Alinejad Dizaj, Seyed Alireza Mahdaviani, Payam Tabarsi, Hamed Ahari, Ahmad Ebrahimi, Seyed Alireza Nadji, Habib Emami, Esmaeil Mortaz
Hypercoagulable state in Mendelian Susceptibility to Mycobacterium Disease (MSMD) patients who are prone to mycobacterium infection has been established in a few studies and thrombosis considered as a rare. In a case-control study, the prevalence of factor V Leiden (FVL), Prothrombin (PTH) G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C677T, A1298C mutations, were investigated among mycobacterium infected patients. The study were compromised 30 patients with mycobacterium infections (Invasive, disseminated and/ or recurrent infections with Bacille Calmette-Guerin (BCG) or non Tuberculosis Mycobacterium (NTM) and Mycobacterium Tuberculosis (MTB), with positive result for Acid Fast Bacilli (AFB), and Tuberculin skin test (TST)) and 30 normal healthy controls...
September 30, 2016: Microbiology and Immunology
Cecilia Contreras-Cubas, Beatríz E Sánchez-Hernández, Humberto García-Ortiz, Angélica Martínez-Hernández, Francisco Barajas-Olmos, Miguel Cid, Elvia C Mendoza-Caamal, Federico Centeno-Cruz, Gabriela Ortiz-Cruz, José Concepción Jiménez-López, Emilio J Córdova, Eva Gabriela Salas-Bautista, Yolanda Saldaña-Alvarez, Juan Carlos Fernández-López, Osvaldo M Mutchinick, Lorena Orozco
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in Mexican Amerindians (MAs), from the largest sample included in a genetic study (n = 2026, from 62 ethnic groups), and in a geographically-matched Mexican Mestizo population (MEZ, n = 638)...
2016: PloS One
Wen-Qing Huang, Hui-Ming Ye, Fang-Fang Li, Ke-Hui Yi, Ya Zhang, Liang-Liang Cai, Hui-Nuan Lin, Qing Lin, Chi-Meng Tzeng
Leukoaraiosis (LA) is a frequent neuroimaging finding commonly observed on brain MRIs of elderly people with prevalence ranging from 50% to 100%. Multiple susceptibility genes or genetic risk factors for LA have been identified in subjects of European descent. Here, we report the first replication study on several common and novel genetic variations in the Chinese population. In this study, a total of 244 subjects (201 LA patients and 43 controls) were enrolled according to our new and strict definition for LA...
August 2016: Medicine (Baltimore)
Adriana Romiti, Michela Roberto, Chiara D'Antonio, Concetta E Onesti, Viola Barucca, Annalisa Milano, Giovanna Gentile, Luana Lionetto, Emanuela Medda, Federica Mazzuca, Andrea Botticelli, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti
Low doses of drugs delivered at close, regular intervals are increasingly being used to manage patients with different neoplasms. Despite the good tolerability, treatment-related adverse events still occur following metronomic protocols. The aim of this study was to retrospectively investigate whether polymorphisms of different genes involved in fluoropyrimidine metabolism and 5-fluorouracil (5-FU) degradation rate were associated with the outcome of a low-dose capecitabine schedule. Genotyping of DPYD IVS14+1 G>A, MTHFR C677T, and A1298C single-nucleotide polymorphisms was performed by pyrosequencing technology...
November 2016: Anti-cancer Drugs
Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Ahmed Alnatsha, Eduardo Villar, Juan Ramón Delgado, María José Faus-Dáder, Miguel Ángel Calleja-Hernández
Platinum-based chemotherapy is the standard treatment for NSCLC patients with EGFR wild-type, and as alternative to failure to EGFR inhibitors. However, this treatment is aggressive and most patients experience grade 3-4 toxicities. ERCC1, ERCC2, ERCC5, XRCC1, MDM2, ABCB1, MTHFR, MTR, SLC19A1, IL6 and IL16 gene polymorphisms may contribute to individual variation in toxicity to chemotherapy. The aim of this study was to evaluate the effect of these polymorphisms on platinum-based chemotherapy in NSCLC patients...
September 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Gholamreza Bahari, Mohammad Hashemi, Majid Naderi, Mohsen Taheri
BACKGROUND: The present study was aimed to examine the possible association between methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms and childhood acute lymphoblastic leukemia (ALL) in a sample of Iranian population. SUBJECTS AND METHODS: A total of 220 subjects including 100 children diagnosed with ALL and 120 healthy children participated in the case-control study. The single nucleotide polymorphisms (SNPs) of MTHFR were determined by ARMS-PCR or PCR-RFLP method...
July 1, 2016: International Journal of Hematology-oncology and Stem Cell Research
Olcay Ünver, Gazanfer Ekinci, Büşra Işın Kutlubay, Thomas Gülten, Sağer Güneş, Nilüfer Eldeş Hacıfazlıoğlu, Dilşad Türkdoğan
AIM: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. MATERIAL AND METHODS: The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. RESULTS: Seven of 11 patients were male (63...
June 2016: Türk Pediatri Arşivi
Han Cen, Hua Huang, Li-Na Zhang, Li-Ya Liu, Li Zhou, Xia-Fei Xin, Ren-Jie Zhuo
The aim of our study was to conduct a meta-analysis to assess whether combined evidence shows associations between C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and genetic susceptibility to rheumatoid arthritis (RA). A total of 11 articles involving 20 comparisons were included, containing 12 comparisons for the MTHFR C677T polymorphism and 8 comparisons for the MTHFR A1298C polymorphism. Significant evidence was detected for the association of RA susceptibility with the MTHFR C677T polymorphism T allele under allelic contrast and dominant model in Asians (T versus C, OR = 1...
July 16, 2016: Clinical Rheumatology
Margaret P Nguyen, Philip J Lupo, Hope Northrup, Alanna C Morrison, Paul T Cirino, Kit Sing Au
BACKGROUND: Few studies have evaluated interactions between maternal genetic variation in 5,10-methylenetetrahydrofolate reductase (MTHFR) and micronutrient intake on the risk of myelomeningocele (MM) in offspring. Therefore, we sought to determine if the role of maternal MTHFR C677T and A1298C on MM risk is altered by maternal intake of micronutrients related to one-carbon metabolism. METHODS: The study consisted of 220 MM case-parent trios recruited from 1996 to 2006...
July 7, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
W J Peng, H Zhang, Y X Li, C Y Li, W R Yan
This study introduced the application of a log-linear model in the hybrid design of case-parents triad/control-mother dyad. Data related to the association between cleft lip with palate (CLP) and methylenetetrahydrofolate reductase (MTHFR) gene A1298C diversity was analyzed. Log-linear model based on likelihood ratio tests (LRTs) was used to analyze the relationships between mother, offspring genotypes and CLP. Data from our study noticed that children of mothers carrying the CC genotype presented a lower risk of CLP, comparing with the children of mothers carrying the AA genotype, with S2=0...
June 2016: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
Meltem Erol, Ozlem Bostan Gayret, Ozgul Yigit, Kubra Serefoglu Cabuk, Mehmet Toksoz, Mahir Tiras
INTRODUCTION: Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient's diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings...
April 2016: Iranian Red Crescent Medical Journal
Nadia Arabkhazaeli, Kasra Ghanaat, Mohammad Bagher Hashemi-Soteh
BACKGROUND: Recurrent pregnancy loss (RPL) is caused by different factors, including genetics and thrombophilia. Beside Factor V Leiden, another nucleotide change in a factor V (FV) gene (A4070G; His1299Arg) has been identified linking to hereditary thrombophilia. Also, two proposed MTHFR polymorphisms, C677T and A1298C (Glu429A) are linked with RPL. OBJECTIVE: In this study, the effect of two factors, A4070G in FV and A1298C in MTHFR are evaluated in RPL patients from Mazandaran province, Iran...
May 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
S H Yildiz, M Ozdemir Erdogan, M Solak, O Eser, E S Arıkan Terzi, B Eser, V Kocabaş, A Aslan
The etiology underlying neural tube defects (NTDs) is not fully understood and is believed to involve a complex milieu of genetic and environmental factors. The A1298C polymorphism in the methylenetetrahydropholate reductase gene (MTHFR) has been associated with mild risk for NTDs. In this study, the genotype distribution of the MTHFR gene A1298C polymorphism and the levels of serum homocysteine, vitamin B12, and folate were evaluated in 33 children with NTDs, their mothers, and 46 healthy controls. Genotyping of the A1298C polymorphism was performed by real-time polymerase chain reaction...
2016: Genetics and Molecular Research: GMR
Ming Zhao, Liang Liang, Liwei Ji, Di Chen, Yatong Zhang, Yuanchao Zhu, Alessia Ongaro
BACKGROUND: MTHFR gene polymorphisms has been shown to be associated with methotrexate (MTX) toxicity in adult hematological malignancies; however, the results remain inconclusive. MATERIALS & METHODS: To examine the role of common MTHFR variants in MTX toxicity prediction, we performed a meta-analysis via identifying relevant studies for quantitative data pooling. RESULTS: Our results showed a significant association between MTHFR C677T polymorphism and increased risk of MTX-induced all-grade (grade 1-4) and severe (grade 3-4) hepatic and gastrointestinal toxicities in Caucasian independent of MTX dosage...
June 2016: Pharmacogenomics
Sarah W El Hajj Chehadeh, Herbert F Jelinek, Wael A Al Mahmeed, Guan K Tay, Unini O Odama, Gehad E B Elghazali, Habiba S Al Safar
PURPOSE: Type 2 diabetes mellitus (T2DM) is the most common form of diabetes with clinical consequences giving rise to chronic multiple organ complications. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms are genetic variations that have been linked to T2DM, and micro/macrovascular complications. The link between MTHFR and T2DM however is strongly dependent on the ethnic group studied. The objective of this study was to investigate the possible association between two MTHFR polymorphisms (C677T and A1298C) and T2DM and specifically examine if there are any associations with clinical and demographic characteristics among patients in the United Arab Emirates (UAE)...
September 2016: Meta Gene
Xiaofang Tan, Zhenbo Yu, Jun Sao, Li Chen, Ya Shen, Jiayi Ding, Weihong Shi
PURPOSE: The aim of this study was to determine whether in vitro fertilization (IVF) outcomes are associated with inherited thrombophilias. METHODS: Several databases including PubMed, Embase, and Cochrane Library were retrieved up to 12 January 2016. The quality of the included studies was assessed by two authors. The associations of the following mutations in inherited thrombophilias and IVF outcomes were explored: factor V Leiden (FVL), prothrombin gene G20210A mutation (PGM), 5,10-methylentetrahydrofolate reductase (MTHFR) C677T, MTHFR (A1298C) and activated protein C resistance (APCR)...
August 2016: Journal of Assisted Reproduction and Genetics
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