Read by QxMD icon Read


A V Ivanov, A G Dedul, Y N Fedotov, E V Komlichenko
BACKGROUND: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP...
October 2016: Gynecological Endocrinology
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
Liv Cecilie V Thomsen, Nina S Mccarthy, Phillip E Melton, Gemma Cadby, Rigmor Austgulen, Ottar K Nygård, Matthew P Johnson, Shaun Brennecke, Eric K Moses, Line Bjørge, Ann-Charlotte Iversen
OBJECTIVE: Preeclampsia is a complex heterogeneous disease commonly defined by new-onset hypertension and proteinuria in pregnancy. Women experiencing preeclampsia have increased risk for cardiovascular diseases (CVD) later in life. Preeclampsia and CVD share risk factors and pathophysiologic mechanisms, including dysregulated inflammation and raised blood pressure. Despite commonalities, little is known about the contribution of shared genes (pleiotropy) to these diseases. This study aimed to investigate whether genetic risk factors for hypertension or inflammation are pleiotropic by also being associated with preeclampsia...
October 17, 2016: Journal of Hypertension
X Qi, G Han, X Guo, V De Stefano, K Xu, Z Lu, H Xu, A Mancuso, W Zhang, X Han, D C Valla, D Fan
BACKGROUND: China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. AIM: To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China...
October 13, 2016: Alimentary Pharmacology & Therapeutics
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
Ali Sazci, Gensay Sazci, Bilgen Sazci, Emel Ergul, Halil Atilla Idrisoglu
BACKGROUND: Migraine is a common neurovascular disorder affecting 10 to 20 % of the world population usually subdivided into migraine with auro (MA) and migraine without auro (MO). Homocysteine is involved in the pathophysiology of a number of neurological disorders. Elevated levels of homocysteine in the plasma is produced by the MTHFR gene rs 1801133 and rs 1801131 variants as well as the NNMT gene rs 694539 variant. METHODS: With the polymerase chain reaction-restriction fragment length polymorphism method developed recently in our laboratory, we were able to show an association between the NNMT gene rs694539 variant and migraine for the first time...
December 2016: Journal of Headache and Pain
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
Mohammad Waseem, Syed Rizwan Hussain, Shashank Kumar, Mohammad Serajuddin, Farzana Mahdi, Satyendra Kumar Sonkar, Cherry Bansal, Mohammad Kaleem Ahmad
BACKGROUND: Breast cancer is one of the most common malignancies in women and is associated with a variety of risk factors. The functional single-nucleotide polymorphism (SNP) C677T in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) may lead to decreased enzyme activity and affect the chemosensitivity of tumor cells. This study was designed to investigate the association of MTHFR gene polymorphism (SNP) in the pathogenesis of breast cancer among the North Indian women population...
2016: Biomarkers in Cancer
Helene McNulty, J J Strain, Catherine F Hughes, Mary Ward
Hypertension is the leading risk factor contributing to mortality worldwide, primarily from cardiovascular disease (CVD), while effective treatment of hypertension is proven to reduce CVD events. Along with the well recognized nutrition and lifestyle determinants, genetic factors are implicated in the development and progression of hypertension. In recent years genome-wide association studies have identified a region near the gene encoding the folate-metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR) among eight loci associated with blood pressure...
October 6, 2016: Molecular Aspects of Medicine
Julian Little, Caroline Barakat-Haddad, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Kyla A McKay, Pascal van Lieshout, Stephanie J Walsh, James Gomes, Daniel Krewski
This paper presents an overview of genetic variation associated with the onset and progression of 14 neurological disorders, focusing primarily on association studies. The 14 disorders are heterogeneous in terms of their frequency, age of onset, etiology and progression. There is substantially less evidence on progression than onset. With regard to onset, the conditions are diverse in terms of their epidemiology and patterns of familial aggregation. While the muscular dystrophies and Huntington's disease are monogenic diseases, for the other 12 conditions only a small proportion of cases is associated with specific genetic syndromes or mutations...
October 3, 2016: Neurotoxicology
Clare B O'Donovan, Marianne C Walsh, Hannah Forster, Clara Woolhead, Carlos Celis-Morales, Rosalind Fallaize, Anna L Macready, Cyril F M Marsaux, Santiago Navas-Carretero, Rodrigo San-Cristobal, Silvia Kolossa, Christina Mavrogianni, Christina P Lambrinou, George Moschonis, Magdalena Godlewska, Agnieszka Surwillo, Jildau Bouwman, Keith Grimaldi, Iwona Traczyk, Christian A Drevon, Hannelore Daniel, Yannis Manios, J Alfredo Martinez, Wim H M Saris, Julie A Lovegrove, John C Mathers, Michael J Gibney, Lorraine Brennan, Eileen R Gibney
BACKGROUND: It is hypothesised that individuals with knowledge of their genetic risk are more likely to make health-promoting dietary and lifestyle changes. The present study aims to test this hypothesis using data from the Food4Me study. This was a 6-month Internet-based randomised controlled trial conducted across seven centres in Europe where individuals received either general healthy eating advice or varying levels of personalised nutrition advice. Participants who received genotype-based personalised advice were informed whether they had the risk (CT/TT) (n = 178) or non-risk (CC) (n = 141) alleles of the methylenetetrahydrofolate reductase (MTHFR) gene in relation to cardiovascular health and the importance of a sufficient intake of folate...
2016: Genes & Nutrition
Karen E Christensen, Wenyang Hou, Renata H Bahous, Liyuan Deng, Olga V Malysheva, Erland Arning, Teodoro Bottiglieri, Marie A Caudill, Loydie A Jerome-Majewska, Rima Rozen
BACKGROUND: Moderately high folic acid intake in pregnant women has led to concerns about deleterious effects on the mother and fetus. Common polymorphisms in folate genes, such as methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase (MTHFD1) R653Q, may modulate the effects of elevated folic acid intake. OBJECTIVES: We investigated the effects of moderate folic acid supplementation on reproductive outcomes and assessed the potential interaction of the supplemented diet with MTHFD1-synthetase (Mthfd1S) deficiency in mice, which is a model for the R653Q variant...
October 5, 2016: American Journal of Clinical Nutrition
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
Olfat G Shaker, Amina M Alnoury, Gehan A Hegazy, Hemmat E El Haddad, Safaa Sayed, Ahmed Hamdy
BACKGROUND: Rheumatoid arthritis is a widely prevalent autoimmune disorder with suggested genetic predisposition. OBJECTIVES: The aim of this study is to detect the pattern of genetic polymorphism of methylene tetrahydrofolate reductase (MTHFR C677 T and A1298 C), transforming growth factor-β1 (TGF-β1 T869 C) and lymphotoxin-α (LT-α A252G) in patients having rheumatoid arthritis and correlate these patterns to disease activity and serum levels of tumor necrosis factor-alpha (TNF-α), B-Cell Activating Factor (BAFF), and osteopontin...
September 2016: Revista Brasileira de Reumatologia
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
Hiroshi Tsukihara, Kenta Tsunekuni, Teiji Takechi
In colorectal cancer chemotherapy, the current standard of care includes combination therapy with 5-fluorouracil (5-FU) and leucovorin (LV). However, the factors that determine the LV-mediated enhancement of 5-FU antitumor activity are not fully understood. Therefore, we investigated the roles of thymidine synthase (TYMS), folate receptor 1 (FOLR1), dihydrofolate reductase (DHFR), phosphoribosylglycinamide formyltransferase (GART), methylenetetrahydrofolate dehydrogenase (MTHFD1), and methylenetetrahydrofolate reductase (MTHFR) in LV-mediated enhancement of 5-fluoro-2'-deoxyuridine (FdUrd) cytotoxicity in vitro as a model of 5-FU antitumor activity...
2016: PloS One
A Eroğlu, G G Ceylan, E Ozturk, A Yalcin, B Yalcin, D Karasoy
UNLABELLED: Venous thromboembolism (VTE) is one of the most common complications in cancer patients. Although factor V Leiden (FVL) is the most common genetic defect causing thrombosis, the impact of gene abnormalities on thrombotic tendency in cancer patients remains poorly explored. Tissue factor (TF) is a major physiologic initiator of blood coagulation. This is the first study regarding the association of TF gene -603A/G and +5466A>G polymorphisms with VTE in malignancy. Materials and Me-thods: The study consists of two groups: cancer patients with VTE were included as Group 1 (n = 46); Group 2 comprises 196 cancer patients without VTE...
September 2016: Experimental Oncology
S K Jaiswal, K K Sukla, A Chauhan, A R Lakhotia, A Kumar, A K Rai
BACKGROUND/OBJECTIVES: Choline is an essential nutrient involved in one-carbon metabolism, but its role in mechanisms underlying meiotic non-disjunction is poorly known. The relationship between folate-homocysteine metabolic pathway gene polymorphism and Down syndrome (DS) risk has been widely analyzed, but there are limited reports on its correlation with choline metabolism. In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS...
September 28, 2016: European Journal of Clinical Nutrition
Aurea Lima, Miguel Bernardes, Rita Azevedo, Vitor Seabra, Rui Medeiros
AIM: Evaluate the potential of selected SNPs as predictors of methotrexate (MTX) therapeutic outcome. PATIENTS & METHODS: In total, 35 SNPs in 14 genes involved in MTX intracellular pathways and Phase II reactions were genotyped in 233 rheumatoid arthritis (RA) patients treated with MTX. Binary logistic regressions were performed by genotype/haplotype-based approaches. Non-Response- and Toxicity-Genetic Risk Indexes (Non-RespGRI and ToxGRI) were created. RESULTS: MTX nonresponse was associated to eight genotypes and three haplotypes: MTHFR rs1801131 AA and rs1801133 TT; MS rs1805087 AA; MTRR rs1801394 A carriers; ATIC rs2372536 C carriers, rs4673993 T carriers, rs7563206 T carriers and rs12995526 T carriers; CC for GGH rs3758149 and rs12681874; CGTTT for ATIC combination 1; and CTTTC for ATIC combination 2...
October 2016: Pharmacogenomics
Ali Suner, Hakan Buyukhatipoglu, Gokmen Aktas, Tulay Kus, Mustafa Ulasli, Serdar Oztuzcu, Mehmet Emin Kalender, Alper Sevinc, Seval Kul, Celaletdin Camci
PURPOSE: The aim of this study is to clarify the relationship between recurrence risk of breast cancer and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms. PATIENTS AND METHODS: Breast cancer patients who had undergone surgery in Gaziantep University Oncology Hospital between June 2005 and June 2012 were followed-up and retrospectively enrolled in this study. Blood samples were collected from all patients to assess MTHFR C677T polymorphisms. Stage according to tumor-node-metastasis system, estrogen receptor, progesterone receptor, human epidermal growth factor receptor 2 status, grade of disease, menopausal status, and administered chemotherapy or hormonal therapy were recorded...
2016: OncoTargets and Therapy
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"