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https://www.readbyqxmd.com/read/29348398/association-study-of-polymorphisms-in-genes-relevant-to-vitamin-b12-and-folate-metabolism-with-childhood-autism-spectrum-disorder-in-a-han-chinese-population
#1
Zengyu Zhang, Lianfang Yu, Sufang Li, Jun Liu
BACKGROUND Both genetic and environmental factors play a role in the development of autism spectrum disorder (ASD). This case-control study examined the association between childhood ASD and single-nucleotide polymorphisms (SNPs) in genes involved with vitamin B12 and folate metabolism. MATERIAL AND METHODS Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with ASD and 200 healthy controls from the Han Chinese population...
January 19, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29343135/genetic-polymorphisms-in-folate-metabolism-as-risk-for-down-syndrome-in-the-southern-china
#2
Lin Jiajin, Cao Shuyan, Wu Ying, Chen Junxiao, Wang Xiudi
OBJECTIVE: To assess the association between maternal gene polymorphisms of the enzymes involved in folate metabolism and the risk of having a Down syndrome (DS) offspring in southern China mothers. METHODS: Gene polymorphisms in folate metabolizing and the levels of homocysteine (HCY) were analyzed in 84 southern China mothers with DS babies (the case group) and 120 healthy mothers (the control group). Methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133) and A1298C (rs1801131), methionine synthase (MTR) A2756G (rs1805087), and methionine synthase reductase (MTRR) A66G (rs1801394) were studied...
January 17, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29340279/effect-of-mthfr-a1298c-and-mtrr-a66g-genetic-mutations-on-homocysteine-levels-in-the-chinese-population-a-systematic-review-and-meta-analysis
#3
Jiancheng Wang, Nengtai Ouyang, Long Qu, Tengfei Lin, Xianglin Zhang, Yaren Yu, Chongfei Jiang, Liling Xie, Liping Wang, Zhigui Wang, Shuzhen Ren, Shizhi Chen, Jiang Huang, Fang Liu, Weiqing Huang, Xianhui Qin
Background and Objectives: The Chinese population typically has inadequate folate intake and no mandatory folic acid fortification. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are the two key regulatory enzymes in the folate/homocysteine (Hcy) metabolism. Hcy has been implicated in the pathogenesis of cardiovascular disease. We conducted a meta-analysis to assess whether the MTHFR gene A1298C and the MTRR gene A66G polymorphisms affect Hcy levels in the Chinese population...
December 2017: Journal of Translational Internal Medicine
https://www.readbyqxmd.com/read/29340220/multilocus-analysis-of-genetic-susceptibility-to-myocardial-infarction-in-russians-replication-study
#4
N G Kukava, B V Titov, G J Osmak, N A Matveeva, O G Kulakova, A V Favorov, R M Shakhnovich, M Ya Ruda, O O Favorova
In search of genetic markers of myocardial infarction (MI) risk, which have prognostic significance for Russians, we performed a replication study of MI association with genetic variants of PCSK9 (rs562556), APOE (epsilon polymorphism, rs7412 and rs429358), LPL (rs320), MTHFR (rs1801133), eNOS (rs2070744), and the 9p21 region (rs1333049) in 405 patients with MI and 198 controls. Significant MI association was observed with variants of the lipid metabolism genes (PCSK9, APOE and LPL), and of eNOS. The SNPs in the MTHFR gene and the 9p21 region were not significantly associated with MI one by one but were included in several different MI-associated allelic combinations identified by multilocus analysis...
October 2017: Acta Naturae
https://www.readbyqxmd.com/read/29340069/methylenetetrahydrofolate-reductase-tagging-polymorphisms-are-associated-with-risk-of-esophagogastric-junction-adenocarcinoma-a-case-control-study-involving-2-740-chinese-han-subjects
#5
Guowen Ding, Yafeng Wang, Yu Chen, Jun Yin, Chao Liu, Yu Fan, Hao Qiu, Weifeng Tang, Shuchen Chen
In this study, we aimed to determine the potential association of MTHFR tagging single nucleotide polymorphisms (SNPs) with risk of developing esophagogastric junction adenocarcinoma (EGJA). MTHFR rs1801133 G>A, rs3753584 T>C, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C polymorphisms were genotyped in 1,677 healthy individuals and 1,063 patients with EGJA. We found that MTHFR rs1801133 G>A polymorphism was significantly associated with the risk of developing EGJA (AA vs. GG: adjusted P = 0...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29331485/impact-of-9p21-3-region-and-atherosclerosis-related-genes-variants-on-long-term-recurrent-hard-cardiac-events-after-a-myocardial-infarction
#6
German J Osmak, Boris V Titov, Natalia A Matveeva, Vitalina V Bashinskaya, Roman M Shakhnovich, Tatiana S Sukhinina, Nino G Kukava, Mikhail Ya Ruda, Olga O Favorova
Atherosclerotic coronary artery disease (CAD) and myocardial infarction (MI) as its most severe clinical complication remain the leading causes of mortality in the majority of countries. Despite the progress in the treatment of MI, quite often the patients, after the first-time MI, develop subsequently a variety of adverse cardiovascular events. In this retrospective study we evaluated the contribution of allelic variations in 9p21.3 locus and in 21 atherogenesis-related genes to the development of hard cardiac events in a cohort of patients of Russian ethnicity after the first acute MI during long-term follow-up (7-10 years)...
January 10, 2018: Gene
https://www.readbyqxmd.com/read/29330520/association-of-homocysteine-with-aysmptomatic-intracranial-and-extracranial-arterial-stenosis-in-hypertension-patients
#7
Yan Wang, Jin Zhang, Yuesheng Qian, Xiaofeng Tang, Huawei Ling, Kemin Chen, Yan Li, Pingjin Gao, Dingliang Zhu
Elevated plasma homocysteine (Hcy) is suggested as an independent risk factor for stroke. We aimed to investigate the association of Hcy concentration with intracranial atherosclerosis (ICAS) and extracranial AS (ECAS) in hypertensive patients without stroke in Chinese population and to explore modified effect of methylenetetrahydrofolate reductase (MTHFR) C677T on their relationship. The stenosis of intracranial and extracranial arteries were evaluated in a total of 929 subjects through computerized tomographic angiography (CTA) from aortic arch to the skull base...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329322/methylene-tetrahydrofolate-reductase-contributes-to-allergic-airway-disease
#8
Kenneth R Eyring, Brent S Pedersen, Kenneth N Maclean, Sally P Stabler, Ivana V Yang, David A Schwartz
RATIONALE: Environmental exposures strongly influence the development and progression of asthma. We have previously demonstrated that mice exposed to a diet enriched with methyl donors during vulnerable periods of fetal development can enhance the heritable risk of allergic airway disease through epigenetic changes. There is conflicting evidence on the role of folate (one of the primary methyl donors) in modifying allergic airway disease. OBJECTIVES: We hypothesized that blocking folate metabolism through the loss of methylene-tetrahydrofolate reductase (Mthfr) activity would reduce the allergic airway disease phenotype through epigenetic mechanisms...
2018: PloS One
https://www.readbyqxmd.com/read/29325775/nutrigenetic-variants-and-cardio-metabolic-risk-in-women-with-or-without-gestational-diabetes
#9
Marica Franzago, Federica Fraticelli, Daniela Marchetti, Claudio Celentano, Marco Liberati, Liborio Stuppia, Ester Vitacolonna
AIM: Gestational diabetes mellitus (GDM) is the most frequent metabolic disorder in pregnancy and it can be considered a silent risk associated to T2DM and CVD later in life. The aim of this study was to investigate the association of clinical parameters with nine single nucleotide polymorphisms (SNPs) involved with nutrients and metabolism in women with or without GDM in order to identify potential routine clinical markers for early prevention. METHODS: Nine gene variants associated with nutrients and metabolism, namely PPARG2 rs1801282 (C>G); PPARGC1A rs8192678 (C>T); TCF7L2 rs7903146 (C>T); LDLR rs2228671 (C>T); MTHFR rs1801133 (C>T); APOA5 rs662799 (T>C); GCKR rs1260326 (C>T); FTO rs9939609 (T>A); MC4R rs17782313 (T>C) were genotyped in 104 GDM cases and 124 controls using High Resolution Melting (HRM) analysis...
January 8, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29321350/neuro-fuzzy-model-of-homocysteine-metabolism
#10
Shaik Mohammad Naushad, Akella Radha Rama Devi, Sriraman Nivetha, Ganapathy Lakshmitha, Alex Balraj Stanley, Tajamul Hussain, Vijay Kumar Kutala
In view of well-documented association of hyperhomocysteinaemia with a wide spectrum of diseases and higher incidence of vitamin deficiencies in Indians, we proposed a mathematical model to forecast the role of demographic and genetic variables in influencing homocysteinemetabolism and investigated the influence of life style modulations in controlling homocysteine levels. Total plasma homocysteine levels were measured in fasting samples using reverse phase HPLC. Multiple linear regression (MLR) and neuro-fuzzy models were developed...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29317847/pharmacogenetic-guidance-individualized-medicine-promotes-enhanced-pain-outcomes
#11
Lisa Lynn Dragic, Erica L Wegrzyn, Michael E Schatman, Jeffrey Fudin
The use of pharmacogenomics has become more prevalent over the past several years in treating many disease states. Several cytochrome P450 enzymes play a role in the metabolism of many pain medications including opioids and antidepressants. Noncytochrome P450 enzymes such as methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) also play a role in the explanation of opioid dosage requirements as well as in response to certain antidepressants. We present the case of a patient with reduced COMT and MTHFR expression treated with leucovorin 10 mg daily for the management of chronic pain...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29315997/systematic-review-and-meta-analysis-of-the-associations-between-maternal-methylenetetrahydrofolate-reductase-polymorphisms-and-preterm-delivery
#12
Qiwen Fang, Yixuan Jiang, Zhenqiu Liu, Zhijie Zhang, Tiejun Zhang
AIM: To date, reported associations between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and preterm delivery are conflicting. The present meta-analysis summarized the existing evidence and evaluated these associations. METHODS: Eligible studies were retrieved from Medline (PubMed), EMBASE, the Chinese Biomedical Literature Database and the Cochrane Library. We calculated pooled odds ratios (ORs) and 95% confidence interval (CIs) within five genetic models using either random-effects or fixed-effects models dependent on study heterogeneity...
January 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29299826/differentiation-of-antemortem-pulmonary-thromboembolism-and-postmortem-clot-with-unenhanced-mri-a-case-report
#13
Ingo von Both, Silvio Giancarlo Bruni, Jayantha C Herath
We report a case of a 39-year-old woman who died of fulminant pulmonary thromboembolism (PE). Autopsy showed classical findings of fulminant PE with occlusion of the bilateral main stem pulmonary arteries. Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation). Pre-autopsy postmortem computed tomography was used to test whether virtual imaging studies alone (virtual autopsy) would be sufficient to detect PE. Our studies show that computed tomography (CT) can differentiate antemortem clots from a postmortem clot in certain cases, particularly when combined with magnetic resonance imaging (MRI), which is superior in the assessment of soft tissue...
January 4, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29299150/methylenetetrahydrofolate-reductase-tagging-polymorphisms-are-associated-with-risk-of-non-small-cell-lung-cancer-in-eastern-chinese-han-population
#14
Hao Ding, Yafeng Wang, Yuanmei Chen, Chao Liu, Hao Qiu, Mingqiang Kang, Weifeng Tang
Previous reports implicated 5,10-ethylenetetrahydrofolate reductase (MTHFR) polymorphisms acted as a potential risk factor for several cancers. In order to explore the effect of MTHFR SNPs on non-small cell lung cancer (NSCLC), we selected MTHFR tagging single nucleotide polymorphisms (SNPs) and carried out a case-control study to determine the potential relationship of MTHFR SNPs with NSCLC risk. Our study consisted of 521 NSCLC patients and 1,030 non-cancer controls. MTHFR SNPs were genotyped by SNPscanTM genotyping assay...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29289372/childhood-abuse-experiences-and-the-comt-and-mthfr-genetic-variants-associated-with-male-sexual-orientation-in-the-han-chinese-populations-a-case-control-study
#15
Jia-Bi Qin, Guang-Lu Zhao, Feng Wang, Yu-Mao Cai, Li-Na Lan, Lin Yang, Tie-Jian Feng
BACKGROUND: Although it is widely acknowledged that genetic and environmental factors are involved in the development of male homosexuality, the causes are not fully understood. AIM: To explore the association and interaction of childhood abuse experiences and genetic variants of the catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes with the development of male homosexuality. METHODS: A case-control study of 537 exclusively homosexual men and 583 exclusively heterosexual men was conducted, with data collected from March 2013 to August 2015...
January 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29284203/severe-methylenetetrahydrofolate-reductase-mthfr-deficiency-a-rare-treatable-cause-of-complicated-hereditary-spastic-paraplegia
#16
Alessia Perna, Marcella Masciullo, Anna Modoni, Elena Cellini, Elena Parrini, Enzo Ricci, Alice M Donati, Gabriella Silvestri
BACKGROUND: Juvenile or adult onset forms of severe 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated hereditary spastic paraplegia have been rarely described. METHODS: Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. RESULTS: Brain MRI showed occipital white matter alterations; EMG documented a mixed polyneuropathy...
December 28, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29283070/pharmacogenomics-of-methotrexate-current-status-and-future-outlook
#17
Mengda Cao, Miao Guo, De-Qin Wu, Ling Meng
BACKGROUND: Methotrexate (MTX) is a folate analogue with high therapeutic efficiency in the treatment of cancers and autoimmune diseases. The efficacy and toxicity of MTX may be altered by genetic polymorphisms in genes involved in MTX metabolic pathway. Personalized pharmacotherapy based on gene polymorphisms enables a more efficient, compatible and cost-effective treatment of patients. OBJECTIVE: Present article aims to review genetic polymorphisms associated with MTX pharmacokinetics, toxicity, and outcome, and try to point out future development directions of individualized MTX therapy...
December 27, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/29273593/novel-susceptibility-loci-for-moyamoya-disease-revealed-by-a-genome-wide-association-study
#18
Lian Duan, Ling Wei, Yanghua Tian, Zhengshan Zhang, Panpan Hu, Qiang Wei, Sugang Liu, Jun Zhang, Yuyang Wang, Desheng Li, Weizhong Yang, Rui Zong, Peng Xian, Cong Han, Xiangyang Bao, Feng Zhao, Jie Feng, Wei Liu, Wuchun Cao, Guoping Zhou, Chunyan Zhu, Fengqiong Yu, Weimin Yang, Yu Meng, Jingye Wang, Xianwen Chen, Yu Wang, Bing Shen, Bing Zhao, Jinghai Wan, Fengyu Zhang, Gang Zhao, Aimin Xu, Xuejun Zhang, Jianjun Liu, Xianbo Zuo, Kai Wang
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a rare cerebral vasculopathy characterized by bilateral internal carotid artery stenosis and often leads to stroke in children or young adults. Although familial inheritance is well recognized, the genetic basis of MMD remains poorly understood. METHODS: A 2-stage genome-wide association study was conducted involving 1492 cases and 5084 controls. In the discovery stage, logistic regression was used to test associations, and imputation was conducted based on genotyped single-nucleotide polymorphisms (SNPs)...
January 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29259859/mthfr-promoter-hypermethylation-may-lead-to-congenital-heart-defects-in-down-syndrome
#19
Ambreen Asim, Sarita Agarwal, Inusha Panigrahi, Nazia Saiyed, Sonal Bakshi
Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. Studies have revealed that increased MTHFR promoter methylation results in the reduction of MTHFR protein activity further leading to increased risk of various diseases...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29246599/manifestations-of-neurological-symptoms-and-thromboembolism-in-adults-with-mthfr-deficiency
#20
Paulus S Rommer, Johannes Zschocke, Brian Fowler, Manuela Födinger, Vassiliki Konstantopoulou, Dorothea Möslinger, Elisabeth Stögmann, Erhard Suess, Matthias Baumgartner, Eduard Auff, Gere Sunder-Plassmann
BACKGROUND: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood. OBJECTIVE: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood. METHODS: Extensive diagnostic work-up including genetic testing was performed in four adult members...
December 15, 2017: Journal of the Neurological Sciences
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