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M C Jiménez-González, D Santiago-Germán, E F Castillo-Henkel, J A Alvarado-Moreno, J Hernández-Juárez, A Leaños-Miranda, A Majluf-Cruz, I Isordia-Salas
INTRODUCTION: Numerous polymorphisms in candidate genes coding for haemostatic system proteins have been proposed as risk factors for thrombosis. METHODS: We performed a case-control study of consecutive ischaemic stroke survivors aged ≤ 45 years, treated at our neurology department from 2006 to 2014. Polymerase chain reaction-restriction fragment length polymorphism identified the following polymorphisms: Thr325Ile and Ala147Thr in TAFI, 4G/5G in PAI-1, PLA1/A2 in platelet glycoprotein IIb/IIIa, Glu298Asp in eNOS, and C677T in 5,10-MTHFR...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Sarah Yang, Jeonghee Lee, Yoon Park, Eun Kyung Lee, Yul Hwangbo, Junsun Ryu, Joohon Sung, Jeongseon Kim
The effect of alcohol intake on thyroid cancer is unestablished, and its interaction effects with genetic susceptibility are unclear. In this case-control study, the relationship among alcohol intake, the methylenetetrahydrofolate reductase (MTHFR) gene, and thyroid cancer risk has been evaluated. In total, 642 cases and 642 controls of Korean origin were included, and the genetic variants C677T and A1298C of the MTHFR gene were analysed. The interactions between alcohol-consumption behaviour and genetic variants were analysed with a likelihood ratio test, wherein a multiplicative interaction term was added to a logistic regression model...
March 6, 2018: Scientific Reports
S Pamela K Shiao, James Grayson, Chong Ho Yu, Brandi Wasek, Teodoro Bottiglieri
For the personalization of polygenic/omics-based health care, the purpose of this study was to examine the gene-environment interactions and predictors of colorectal cancer (CRC) by including five key genes in the one-carbon metabolism pathways. In this proof-of-concept study, we included a total of 54 families and 108 participants, 54 CRC cases and 54 matched family friends representing four major racial ethnic groups in southern California (White, Asian, Hispanics, and Black). We used three phases of data analytics, including exploratory, family-based analyses adjusting for the dependence within the family for sharing genetic heritage, the ensemble method, and generalized regression models for predictive modeling with a machine learning validation procedure to validate the results for enhanced prediction and reproducibility...
February 16, 2018: Journal of Personalized Medicine
N Kotova, V Maichuk, O Fedorenko
Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) is a genetic determinant of folate metabolism violation. Admission of folic acid in a standard dose of 0.4 mg and / or the use of fortified foods does not allow reaching the protective level of folic acid if there is a mutation of the MTHFR gene or when several risk factors combine, which requires a higher dose of folic acid...
January 2018: Georgian Medical News
Syed Shafia, Mahrukh H Zargar, Nabeela Khan, Rehana Ahmad, Zafar Amin Shah, Ravouf Asimi
AIM: The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism. METHODOLOGY: A case-control study was designed with 250 VTE patients and 250 healthy controls. The mutations were analysed using ARMS-PCR and PCR-RFLP approach. RESULT: The factor V Leiden G1691A mutation was found in 17/250 (6...
February 14, 2018: Gene
Juan Ni, Yaoxian Liu, Tao Zhou, Xiayu Wu, Xu Wang
OBJECTIVE: One-carbon metabolism (OCM) is essential for DNA synthesis and methylation. Single nucleotide polymorphisms (SNPs) within OCM genes may affect folic acid (FA) metabolism, disrupt homocysteine (Hcy) homeostasis, and increase the risk of disease. This study investigated the relationship between SNPs in key OCM genes and their association with blood FA and Hcy levels in a healthy population in Yunnan, China. METHODS: Six SNPs within five key OCM genes (MTHFR C677T, MTHFR A1298C, MS A2756G, MTRR A66G, CBS T833C, and SHMT C1420T) were genotyped in 300 healthy volunteers (148 males and 152 females) using polymerase chain reaction/restriction fragment length polymorphism...
February 16, 2018: Genetic Testing and Molecular Biomarkers
Masanori Nojima, Motoki Iwasaki, Yoshio Kasuga, Shiro Yokoyama, Hiroshi Onuma, Hideki Nishimura, Ritsu Kusama, Teruhiko Yoshida, Shoichiro Tsugane
BACKGROUND: Chronic inflammatory conditions are associated with higher tumor incidence through epigenetic and genetic alterations. Here, we focused on an association between an inflammation marker, C-reactive-protein (CRP), and global DNA methylation levels of peripheral blood leukocytes. METHODS: The subjects were 384 healthy Japanese women enrolled as the control group of a case-control study for breast cancer conducted from 2001 to 2005. Global DNA methylation was quantified by Luminometric Methylation Assay (LUMA)...
February 13, 2018: BMC Cancer
Sopio Garakanidze, Elísio Costa, Elsa Bronze-Rocha, Alice Santos-Silva, Giorgi Nikolaishvili, Irina Nakashidze, Nona Kakauridze, Salome Glonti, Rusudan Khukhunaishvili, Marina Koridze, Sarfraz Ahmad
Methylenetetrahydrofolate reductase ( MTHFR) gene polymorphism (C677T)] is a well-recognized genetic risk factor for venous thrombosis; however, its association with arterial thrombosis is still under debate. Herein, we evaluated the prevalence of MTHFR C677T polymorphism in Georgian patients in comparison with healthy individuals and its association with arterial thrombosis. We enrolled 214 participants: 101 with arterial thrombosis (71.3% males; mean age: 66.3 ± 12.1 years) and 113 controls (67.3% males; mean age: 56...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
Jun Cheng, Fang Tao, Yanhong Liu, Scott A Venners, Yi-Hsiang Hsu, Shanqun Jiang, Justin Weinstock, Binyan Wang, Genfu Tang, Xiping Xu
OBJECTIVE: To confirm the association between baseline blood pressure (BP) levels and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in patients with essential hypertension. METHODS: A total of 347 patients were enrolled from the Dongzhi community in Anhui Province, China. The C677T polymorphism of the MTHFR gene was detected using high-throughput TaqMan allelic discrimination assay. Baseline BP was measured using a standardized mercury-gravity monometer...
February 13, 2018: Clinical and Experimental Hypertension: CHE
Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti
Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene...
February 2018: Biomedical Reports
Jorge Escobedo, Emmanuel Paz-Aragón, Luz Helena Vega-Rodríguez, Miguel Ángel Benítez-Sanfeliz, Humberto Estrada-Rodríguez, Evangelina González-Figueroa, María Gabriela Liceaga-Craviotto, Jorge Gutiérrez-Cuevas, Adán Valladares-Salgado, Miguel Cruz
BACKGROUND: Although there is adequate knowledge as to the role of traditional cardiovascular risk factors on stroke incidence, knowledge of other risk factors, particularly genetic ones, is still incomplete. METHODS: To assess the participation of some polymorphisms, along with other modifiable risk factors, a case-control study was conducted. A total of 253 cases were identified in the emergency room of a general regional hospital, with a clinical trait of stroke confirmed by a skull computerized axial tomography scan...
February 2, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Koroush Khalighi, Gang Cheng, Seyedabbas Mirabbasi, Bahar Khalighi, Yin Wu, Wuqiang Fan
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have been found to be related with many diseases. Systemic inflammation is now considered as a major predisposition factor for diseases including diabetes mellitus (DM), coronary arterial disease (CAD), stroke, and cancer. This study aimed to investigate whether systemic inflammation is a possible underlying pathogenesis for MTHFR gene polymorphism-related disease. METHODS: A total of 292 patients were enrolled, and single nucleotide polymorphisms for MTHFR C667T and A1298C were genotyped...
February 3, 2018: Journal of Clinical Laboratory Analysis
Igrid García-González, Roger Iván López-Díaz, José Reyes Canché-Pech, Alberto de Jesús Solís-Cárdenas, Jorge A Flores-Ocampo, Renán Mendoza-Alcocer, Luis Fernando Herrera-Sánchez, Marco Antonio Jiménez-Rico, Adrián Alejandro Ceballos-López, María E López-Novelo
OBJECTIVE: Epistasis is a type of genetic interaction that could explain much of the phenotypic variability of complex diseases. In this work, the effect of epistasis of metabolic genes and cardiovascular risk on the susceptibility to the development of ischemic heart disease in Yucatan was determined. METHODS: Case-control study in 79 Yucatecan patients with ischemic heart disease and 101 healthy controls matched by age and origin with cases. The polymorphisms -108CT, Q192R, L55M (paraoxonase 1; PON1), C677T, A1298C (methylenetetrahydrofolate reductase; MTHFR), and the presence/absence of the glutathione S-transferase T1 (GSTT1) gene were genotyped...
January 28, 2018: Clínica e Investigación en Arteriosclerosis
Aifan Li, Yunshu Shi, Liyan Xu, Yuchao Zhang, Huiling Zhao, Qiangmin Li, Xingjuan Zhao, Xinhui Cao, Hong Zheng, Ying He
BACKGROUND: Homocysteine (Hcy) plays an important role in vascular function and Hcy level contributes to pathogenesis of ischemic stroke (IS). MTHFR gene polymorphism may have effects on IS risks by influencing the Hcy metabolic pathway. In the present study, a case-control study was designed to evaluate the relationship among MTHFR C677Tpolymorphism, plasma Hcy level, and susceptibility of IS in Chinese population. METHODS: A total of 300 patients with IS and 261 matched control subjects were recruited...
December 2017: Medicine (Baltimore)
Ewelina Maria Kałużna, Ewa Strauss, Bogna Świątek-Kościelna, Olga Zając-Spychała, Ewelina Gowin, Jerzy S Nowak, Jolanta Rembowska, Danuta Januszkiewicz-Lewandowska
The etiology of acute lymphoblastic leukemia (ALL) is complex, linked with both environmental exposures and genetic factors. Functional variants of the methylenetetrahydrofolate reductase (MTHFR) gene result in disturbance in folate metabolism and may affect susceptibility to cancer. The study was performed to evaluate whether MTHFR C677T and A1298C polymorphisms, analyzed separately and together, are associated with the development of ALL in a population under 18 years of age of Caucasian ancestry.The study included 117 pediatric patients (59% males, mean age at diagnosis 7...
December 2017: Medicine (Baltimore)
Mohaddeseh Salehi, Mona Amin-Beidokhti, Behnam Safarpour Lima, Milad Gholami, Gholam-Reza Javadi, Reza Mirfakhraie
Introduction: Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease. Objectives: We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population...
2018: Journal of Pain Research
Vandana Rai
Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigentic process of DNA methylation. It has been reported that abnormal DNA methylation contributes to the pathogenesis of congenital anomalies. There were many published case control studies assessing the associations of MTHFR C677T polymorphism with risks of nosyndromic cleft lip with and without palate (nsCL/P), but with inconsistent results. To derive a more precise estimation of the relationship, a meta-analysis was performed...
January 2018: Indian Journal of Clinical Biochemistry: IJCB
Xiao Huang, Xianhui Qin, Wenbin Yang, Lishun Liu, Chongfei Jiang, Xianglin Zhang, Shanqun Jiang, Huihui Bao, Hai Su, Ping Li, Mingli He, Yun Song, Min Zhao, Delu Yin, Yu Wang, Yan Zhang, Jianping Li, Renqang Yang, Yanqing Wu, Kui Hong, Qinhua Wu, Yundai Chen, Ningling Sun, Xiaoying Li, Genfu Tang, Binyan Wang, Yefeng Cai, Fan Fan Hou, Yong Huo, Hong Wang, Xiaobin Wang, Xiaoshu Cheng
OBJECTIVE: This post hoc analysis of the CSPPT (China Stroke Primary Prevention Trial) assessed the individual variation in total homocysteine (tHcy)-lowering response after an average 4.5 years of 0.8 mg daily folic acid therapy in Chinese hypertensive adults and evaluated effect modification by methylenetetrahydrofolate reductase ( MTHFR ) C677T genotypes and serum folate levels. APPROACH AND RESULTS: This analysis included 16 413 participants from the CSPPT, who were randomly assigned to 2 double-blind treatment groups: either 10-mg enalapril+0...
March 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
Jing-Chao Ren, Yu-Xia Wu, Zhenzhen Wu, Guang-Hui Zhang, Hongjian Wang, Hongzhou Liu, Jun-Peng Cui, Qing Chen, Jinyi Liu, Arthur Frank, Jia Cao, Zhao-Lin Xia
OBJECTIVE AND METHODS: To analyze the association between global DNA methylation and single-nucleotide polymorphisms (SNPs) in MTHFR. MTHFR polymorphisms rs1801133 and rs1801131 were detected using the restriction fragment length polymorphism method, and cytokinesis-block micronucleus (MN) frequency and global DNA methylation was measured in workers from 410 shoe factories. RESULTS: A multilinear regression analysis demonstrated that DNA methylation of the TT variant allele of rs1801133 was lower than that of the CC wild type allele (Exp(β) (95% CI), 0...
January 24, 2018: Journal of Occupational and Environmental Medicine
Santoshi Kumari Manche, Madhavi Jangala, Dinesh Dudekula, Meganadh Koralla, Jyothy Akka
AIM: Presbycusis or age related hearing loss is caused by several extrinsic and intrinsic factors that damage the auditory system. Gene polymorphisms in folate metabolism were found to play an important role in the etiology of presbycusis. The present study aimed to investigate the role of 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and thymidylate synthase (TYMS) gene polymorphisms in the onset of presbycusis in a South Indian population. MAIN METHODS: A total of 220 subjects confirmed with presbycusis along with 270 age and sex matched healthy controls visiting MAA ENT Hospitals, Hyderabad, India were enrolled for the study...
March 1, 2018: Life Sciences
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