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pai mthfr factor V xiii

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https://www.readbyqxmd.com/read/26781105/%C3%AE-wo-panel-molecular-testing-for-genetic-predisposition-for-thrombosis-using-multi-allele-visual-biosensors
#1
Nikolaos Fountoglou, Margarita Petropoulou, Alexandra Iliadi, Theodore K Christopoulos, Penelope C Ioannou
Thrombosis is considered as the most typical example of multigenic/multifactorial disorder. The three most common genetic risk factors for thrombotic disorders are the G1691A mutation in factor V gene (FV Leiden), the G20210Α mutation in prothrombin gene (FII), and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. An additional panel of biomarkers predisposing for thrombotic events includes the H1299R variant in factor V gene (HR2), A1298C variant in MTHFR gene, the V34L mutation in fibrinogen stabilizing factor XIII (FXIII) gene as well as the 4G/5G polymorphism in plasminogen activator inhibitor type-1 (PAI-1) gene...
March 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/25699610/polymorphisms-in-prothrombotic-genes-in-young-stroke-patients-in-greece-a-case-controlled-study
#2
Kyriaki Ranellou, Anteia Paraskeva, Panagiotis Kyriazopoulos, Anna Batistatou, Aggelos Evangelou, Mahmoud El-Aly, Panagiotis Zis, Antonios Tavernarakis, Konstantinos Charalabopoulos
Mechanisms of ischemic stroke in young adults are poorly understood. The aim of the study was to investigate and compare the frequency of common variations in prothrombotic genes between young patients with ischemic stroke and controls. Fifty-one cases of first-ever ischemic stroke and 70 community-based controls aged below 50 years were studied. In both groups, the insertion/deletion 4G/5G variation (-675 4G/5G PAI-1) as well as the single-nucleotide polymorphism-844 G/A of the PAI-1 (-844 G/A PAI-1) gene promoter, factor V Leiden (FVL) G1691Α, the prothrombin variant (allele 20210A, FIIG20210A), factor XIII-A Val34Leu polymorphism (FXIII-AVal34Leu) and C677T methylenotetrahydrofolate reductase (C677T MTHFR) polymorphism have been assessed...
June 2015: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/24532105/evaluation-of-factor-v-g1691a-prothrombin-g20210a-factor-xiii-v34l-mthfr-a1298c-mthfr-c677t-and-pai-1-4g-5g-genotype-frequencies-of-patients-subjected-to-cardiovascular-disease-cvd-panel-in-south-east-region-of-turkey
#3
Serdar Oztuzcu, Sercan Ergun, Mustafa Ulaşlı, Gülper Nacarkahya, Yusuf Ziya Iğci, Mehri Iğci, Recep Bayraktar, Ali Tamer, Ecir Ali Çakmak, Ahmet Arslan
Cardiovascular disease (CVD) risk factors, such as arterial hypertension, obesity, dyslipidemia or diabetes mellitus, as well as CVDs, including myocardial infarction, coronary artery disease or stroke, are the most prevalent diseases and account for the major causes of death worldwide. In the present study, 4,709 unrelated patients subjected to CVD panel in south-east part of Turkey between the years 2010 and 2013 were enrolled and DNA was isolated from the blood samples of these patients. Mutation analyses were conducted using the real-time polymerase chain reaction method to screen six common mutations (Factor V G1691A, PT G20210A, Factor XIII V34L, MTHFR A1298C and C677T and PAI-1 -675 4G/5G) found in CVD panel...
June 2014: Molecular Biology Reports
https://www.readbyqxmd.com/read/23289804/genetic-polymorphisms-associated-with-retinal-vein-occlusion-a-greek-case-control-study-and-meta-analysis
#4
Georgia G Yioti, Orestis A Panagiotou, Georgios A Vartholomatos, Nikolaos I Kolaitis, Chrisavgi N Pappa, Evangelos Evangelou, Maria I Stefaniotou
BACKGROUND: The genetic background of retinal vein occlusion (RVO) remains unclear. In the current study, we aimed to replicate polymorphisms related to thrombophilia/hypofibrinolysis in a Greek population and also systematically summarize current evidence available on the topic. MATERIALS AND METHODS: A total of 48 RVO patients and 53 controls were genotyped for factor V H1299R and V Leiden, β-fibrinogen G455A, PAI-1 4G/5G, ACE I/D, HPA1, prothrombin G20210A, factor XIII Val34Leu, MTHFR A1298C and C677T polymorphisms...
September 2013: Ophthalmic Genetics
https://www.readbyqxmd.com/read/22962564/migraine-and-genetic-polymorphisms-an-overview
#5
Vincenzo Pizza, Anella Agresta, Antonio Agresta, Eros Lamaida, Norman Lamaida, Francesco Infante, Anna Capasso
The relationship between genetic polymorphisms and migraine as a cause of an increased risk of thrombotic disorders development is still debated In this respect, factor V Leiden, factor V (H1299R), prothrombin G20210A, factor XIII (V34L), β-fibrinogen, MTHFR (C677T), MTHFR (A1298C), APO E, PAI-1, HPA-1 and ACE I/D seem to play a determinant role in vascular diseases related to migraine. The present review analyzes both the incidence of the above genetic vascular mutations in migraineurs and the most re-cent developments related to genetic polymorphisms and migraine...
2012: Open Neurology Journal
https://www.readbyqxmd.com/read/22752805/prevalence-of-myocardial-infarction-polymorphisms-in-afyonkarahisar-western-turkey
#6
Serap Tutgun Onrat, Onder Akci, Zafer Söylemez, Ersel Onrat, Alaettin Avşar
The aim of the study was to investigate relationship between polymorphisms in genes that are clinical and environmental features and the risk of myocardial infarction (MI) in Afyonkarahisar subjects living in Turkey. Prevalence of the several genes polymorphisms, ≤45 (42.04 ± 3.3) and ≥46 (57.19 ± 7.5) years were studied in individuals with MI and without MI (40.30 ± 9.01) individuals were studied. We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor XIII (FXIII) V34L, β-fibrinogen b-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA-1) a/b, apolipoprotein B (ApoB) R3500Q, apolipoprotein E (ApoE), E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a ViennaLab CVD strip assay...
September 2012: Molecular Biology Reports
https://www.readbyqxmd.com/read/22023244/detection-of-thrombophilic-mutations-related-to-spontaneous-abortions-by-a-multiplex-snapshot-method
#7
Svetlana Madjunkova, Marija Volk, Borut Peterlin, Dijana Plaseska-Karanfilska
Spontaneous abortion is a significant clinical problem of different etiologies. Certain thrombophilia gene mutations have been associated with an increased risk of spontaneous abortion. Also, mutations in folate-related genes can lead to abnormal chromosomal segregation during meiosis which is the most common cause of spontaneous abortion. We have developed a multiplex single-base extension reaction assay that allows simultaneous analysis of 10 different mutations in thrombophilia- and folate-related genes (Factor V Leiden G1691A, Factor V H1299R, Factor II G20210A, Factor XIII V34L, PAI-I -675 4G/5G, FGB -455G/A, MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G)...
April 2012: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/21422408/clotting-factor-gene-polymorphisms-and-colorectal-cancer-risk
#8
Carla Y Vossen, Michael Hoffmeister, Jenny C Chang-Claude, Frits R Rosendaal, Hermann Brenner
PURPOSE: Increased coagulation has been associated with cancer onset and progression. Mainly small studies have addressed the association between clotting factor gene polymorphisms and the onset of colorectal cancer. We examined the association between six well-known clotting factor gene polymorphisms and colorectal cancer risk in a large case-control study. PATIENTS AND METHODS: Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study...
May 1, 2011: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/19906129/a-prospective-case-control-study-analyzes-12-thrombophilic-gene-mutations-in-turkish-couples-with-recurrent-pregnancy-loss
#9
Gonca Imir Yenicesu, Meral Cetin, Ozturk Ozdemir, Ali Cetin, Filiz Ozen, Cem Yenicesu, Caglar Yildiz, Nadir Kocak
PROBLEM: Recurrent pregnancy loss (RPL) is a heterogeneous disorder. The contribution of specific thrombophilic genes to the pathophysiology of RPL has remained controversial. We evaluated the prevalences of 12 thrombophilic gene mutations among homogenous Caucasian couples with RPL and fertiles. METHOD: of study This was a prospective case-control study evaluating 272 women with RPL and 152 of their male partners, and a control group of 56 fertile couples. We investigated mutations including FV Leiden, factor V H1299R, factor II prothrombin G20210A, F XIII V34L, beta-fibrinogen -455G>A, plasminogen activator inhibitor-1, GPIIIa L33P (HPA-1 a/b L33P), MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E...
February 2010: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/19860767/genetic-cardiovascular-risk-factors-and-age-related-macular-degeneration
#10
Paulina Haas, Tina Aggermann, Kerstin Steindl, Walter Krugluger, Helene Pühringer, Christian Oberkanins, Sophie Frantal, Susanne Binder
PURPOSE: To investigate the association between genetic cardiovascular risk factors and exudative age-related macular degeneration (AMD) in a White Austrian population. METHODS: Seventy-five unrelated AMD patients and 75 unrelated healthy, sex- and age-matched control patients were genotyped for the following 19 single nucleotide polymorphisms (SNPs) in 14 different genes: blood coagulation factor V (FV) R506Q, factor II (prothrombin) G20210A and factor XIII (FXIII) V34L; 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C; plasminogen activator inhibitor 1 (PAI-1) 4G/5G; endothelial protein C receptor (EPCR) 4600 A>G (A3 haplotype), 4678 G>C (A1 haplotype); apolipoprotein B (ApoB) R3500Q; apolipoprotein E (ApoE) E2/E3/E4; β-fibrinogen -455 G>A; human platelet antigen 1 (HPA1) a/b; angiotensin-converting enzyme (ACE) I/D; endothelial nitric oxide synthase (eNOS) 786 T>C, 894 G>T; lymphotoxin alpha (LTA) 804 C>A and 9p21 rs10757278...
June 2011: Acta Ophthalmologica
https://www.readbyqxmd.com/read/19560472/clinical-factors-such-as-b-type-natriuretic-peptide-link-to-factor-vii-endothelial-no-synthase-and-estrogen-receptor-alpha-polymorphism-in-elderly-women
#11
Jun Funami, Toshio Hayashi, Hideki Nomura, Qun-Fang Ding, Asako Ishitsuka-Watanabe, Hisako Matsui-Hirai, Koichiro Ina, Jie Zhang, Ze-Yun Yu, Akihisa Iguchi
AIMS: This study evaluated the presence of genetic mutations in relation to thrombosis or atherosclerosis in elderly women. MAIN METHODS: This is an observational study of 93 Japanese women with a mean age of 80.9 years recruited from outpatient clinics of Nagoya University and its related hospitals. Ten single nucleotide polymorphisms (SNPs) were studied. Each gene studied acts in or is related to either blood coagulation (factor V Leiden, prothrombin G20210A, factor XIII Val34Leu, factor VII Arg353Gln, MTHFR C677T, beta-fibrinogen G-455A, PAI-1 4G/5G), metabolic syndrome-related pathways (PPARalpha Leu162Val), or endothelium/estrogen system (eNOS Glu298Asp, ERalpha IVS1-401)...
August 12, 2009: Life Sciences
https://www.readbyqxmd.com/read/19395327/early-pregnancy-loss-in-celiac-women-the-role-of-genetic-markers-of-thrombophilia
#12
C Ciacci, R Tortora, O Scudiero, R Di Fiore, F Salvatore, G Castaldo
BACKGROUND: Adverse pregnancy outcomes are more frequent in celiac than in non-celiac women. AIMS: To investigate a possible role of genetic prothrombotic variants in early pregnancy loss of celiac women. METHODS: Thirty-nine celiac women who had experienced early pregnancy losses (at least two losses within the first 3 months of pregnancy), and 72 celiac women with a history of one or more normal pregnancies and no pregnancy loss (controls) entered the study, at the moment of diagnosis for celiac disease...
October 2009: Digestive and Liver Disease
https://www.readbyqxmd.com/read/19378863/-molecular-methods-in-thrombophilic-states-diagnostics
#13
REVIEW
L Slavík, V Krcová, A Hlusí, J Procházková, J Ulehlová
Molecular genetic methods passed into the field of investigation of thrombophilic states in 90th years of last century, along with the first discoveries of coagulation inhibitors (AT III, protein C and protein S). They have acquired a widespread use above all with the detection of the molecular basis of activated protein C (APC) resistance in 1994 by prof. Bertina. At the present time, a wide range of molecular genetic markers, linked with a clearly documented increased risk of thrombophilia are adapted. They include mutations of factor V Leiden 506R/Q, of protrombin 20210G/A, MTHFR 677C/T in homozygous form, mutation of PAI-1 4G/5G, mutations of different coagulation inhibitors and finally a range of polymorphisms with still not precisely defined increased risk for thrombophilia (F XIII Val34leu, platelets glycopeproteins, endothelial protein C receptor and trombomodulin)...
March 2009: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/19365521/molecular-pathophysiology-of-thrombotic-states-and-their-impact-to-laboratory-diagnostics
#14
REVIEW
Ludek Slavik, Vera Krcova, Antonin Hlusi, Jana Prochazkova, Martin Prochazka, Jana Ulehlova, Karel Indrak
BACKGROUND: Molecular genetic methods were implemented in the detection of thrombophilic disorders in the 1990's with the discovery of coagulation inhibitors antithrombin III (AT III), protein C (PC) and S (PS). The discovery of the molecular cause of activated protein C (APC) resistance by Bertina in 1994 greatly expanded their utilization. METHODS AND RESULTS: Currently, a broad group of molecular genetic markers with a clearly demonstrated risk of thrombophilia are used--mutation of FV Leiden 506R/Q, mutation of prothrombin (F II) 20210G/A, mutation of methylenetetrahydrofolate reductase (MTHFR) 677C/T in homozygous form, mutation of plasminogen activator inhibitor (PAI-1) 4G/5G, mutations of single coagulation inhibitors as well as a number of polymorphisms with controversial thrombophilic risk such as F XIII Val34Leu, platelet glycoproteins, endothelial protein C receptor and thrombomodulin...
March 2009: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/19072566/prevalence-of-prothrombotic-polymorphisms-in-greece
#15
Argyri Gialeraki, Marianna Politou, Loukianos Rallidis, Efrosyni Merkouri, Christos Markatos, Dimitrios Kremastinos, Anthi Travlou
The aim of this study was to assess the prevalence of several polymorphisms in genes that are involved in several pathways such as hemostasis, fibrinolysis, platelet membrane receptor activity, endothelial integrity and function, lipid metabolism, and regulation of blood pressure in healthy subjects of Greek origin. Most of these polymorphisms are mainly associated with conditions such as venous thromboembolism and atherothrombosis, and their prevalence has not been studied yet in Greece. We tested 140 healthy individuals for factor V (FV)1691G/A, FV4070G/A, FII 20210G/A, factor XIII (FXIII) exon 2G/T, fibrinogen beta-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA1) a/b, apolipoprotein B (ApoB) 10708 G/A, apolipoprotein E (ApoE) E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a PCR and reverse hybridization technique that detects all of them simultaneously...
December 2008: Genetic Testing
https://www.readbyqxmd.com/read/18803625/comparison-of-thrombophilic-gene-mutations-among-patients-experiencing-recurrent-miscarriage-and-deep-vein-thrombosis
#16
COMPARATIVE STUDY
Carolyn B Coulam, Diane Wallis, Jordan Weinstein, Dipankar S DasGupta, Rajasingam S Jeyendran
PROBLEM: Inherited thrombophilia has been shown to be a risk factor for cardiovascular disease including deep venous thrombosis as well as reproductive disorders including recurrent pregnancy loss. We have previously reported three out of the 10 thrombophilic mutations studied, plasminogen activator inhibitor-1 (PAI-1) 4G/5G, factor XIII V34L, and homozygous MTHFR C667T, correlated significantly with recurrent pregnancy loss compared with controls. This study was undertaken to compare the frequencies of nine inherited thrombophilias among women with a history of recurrent pregnancy loss with individuals experiencing deep venous thrombosis and fertile controls...
November 2008: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/18685811/analysis-of-inherited-thrombophilic-mutations-and-natural-anticoagulant-deficiency-in-patients-with-idiopathic-portal-hypertension
#17
Kadim Bayan, Yekta Tüzün, Serif Yilmaz, Naime Canoruc, Mehmet Dursun
Idiopathic portal hypertension (IPH) is characterized by non-cirrhotic presinusoidal intrahepatic portal hypertension. The etiopathogenesis of the disease is poorly understood. Obliteration with microthrombosis of the small portal vein branches may lead to lesions underlying portal hypertension. We aimed to put forward a comprehensive thrombophilic mutation profile in IPH and its probable contribution to pathogenesis. Eleven patients and 12 controls were included. We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total of 12 thrombophilic gene mutations: Factor V R506Q, Factor V H1299R, prothrombin G20210A, Factor XIII V34L, beta-Fibrinogen -455 G-A, PAI-1 4G/5G, platelet GPIIIa L33P, MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q and Apo E2/E3/E4, respectively...
July 2009: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/18680221/thrombosis-and-inflammatory-bowel-disease-the-role-of-genetic-risk-factors
#18
REVIEW
Georgia Tsiolakidou, Ioannis-E Koutroubakis
Thromboembolism is a significant cause of morbidity and mortality in patients with inflammatory bowel disease (IBD). Recent data suggest thromboembolism as a disease-specific extraintestinal manifestation of IBD, which is developed as the result of multiple interactions between acquired and genetic risk factors. There is evidence indicating an imbalance of procoagulant, anticoagulant and fibrinolitic factors predisposing in thrombosis in patients with IBD. The genetic factors that have been suggested to interfere in the thrombotic manifestations of IBD include factor V Leiden, factor II (prothrombin, G20210A), methylenetetrahydrofolate reductase gene mutation (MTHFR, 6777T), plasminogen activator inhibitor type 1 (PAI-1) gene mutation and factor XIII (val34leu)...
July 28, 2008: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/17111197/a-comprehensive-analysis-of-12-thrombophilic-mutations-and-related-parameters-in-patients-with-inflammatory-bowel-disease-data-from-turkey
#19
Serif Yilmaz, Kadim Bayan, Yekta Tüzün, Sabri Batun, Abdullah Altintaş
BACKGROUND: Possible association of inflammatory bowel disease (IBD) with the most common inherited prothrombotic conditions has been the focus of many investigations. Advance in modern molecular biology is expanding the thrombophilia evaluation steadily. We tried to put forward a comprehensive thrombophilic profile in IBD and to see the probable role of this profile in pathogenesis. METHODS: A total of 60 adults (33 patients and 27 healthy controls) were included...
December 2006: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/16938111/which-thrombophilic-gene-mutations-are-risk-factors-for-recurrent-pregnancy-loss
#20
Cyle S Goodman, Carolyn B Coulam, Rajasingam S Jeyendran, Vida A Acosta, Roumen Roussev
PROBLEM: Thrombophilia has been associated with poor obstetrical outcomes. To determine the association of specific inherited thrombophilias and recurrent pregnancy loss, 10 thrombophilic genes were investigated. METHOD OF STUDY: A total of 550 women with a history of recurrent pregnancy loss had buccal swabs taken for DNA analyses of the following gene mutations: factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C...
October 2006: American Journal of Reproductive Immunology: AJRI
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