The prevalence of VKORC1 1639 G&gt;A and CYP2C9*2*3 genotypes in patients that requiring anticoagulant therapy in Turkish population

Silan, Coşkun; Doǧan, Ömer Tamer; Sılan, Fatma; Kukulguven, Fatma Mutlu; Aşgün, Halil Fatih; Özdemir, Semra; Uludağ, Ahmet; Atik, Sinem; Gungor, Bilgi; Akdur, Secil; Aksulu, Hakkı Engin; Özdemir, Öztürk

doi:10.1007/s11033-012-2004-2

Cited by 4 publications

(3 citation statements)

References 28 publications

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“…In our control group, we found the VKORC genotype as 19 (37.3%) for GG, 19 (37.3%) for GA, and 13 (25.5%) for AA alleles. Silan et al 19 found that the genotype of VKORC was detected as follows: 64 (21.9%) for GG, 220 (75.4%) for GA, and 8 (2.7%) for AA alleles 55% in the study conducted in 2012.…”

Section: Discussionmentioning

confidence: 95%

Genetic Polymorphism of VKORC1-1639 in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency

Berber

Özdemır

Ünal

et al. 2018

Clin Appl Thromb Hemost

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Intracranial hemorrhage due to vitamin K deficiency is a serious disease that can lead to morbidity, mortality, and mental retardation. Our goal in this study is to determine the frequency of VKORC1-1639 G>A polymorphism in patients who have undergone intracranial hemorrhage due to vitamin K deficiency bleeding (VKDB). To study VKORC1-1639 G>A polymorphism, blood was drawn from patients (n = 51, age 8:0 ± 6:5 years) followed at the Pediatric Neurology and Hematology section, Faculty of Medicine, Erciyes University, between 1990 and 2016, diagnosed with VKDB as idiopathic or from patients diagnosed with intracranial hemorrhage due to secondary vitamin K deficiency and also from volunteers (n = 51, age 11 ± 4.5 years). Intensive care and nutrition needs of patients and the laboratory radiological imaging results and treatments that were applied were analyzed through scanning the files of the patients and information received from families. Through detailed physical examination, patients with neurologic sequelae and ongoing epilepsy were determined. The results were compared to clinical and laboratory results with control group. Eight (15.7%) of the patients were normal, 29 (56.9%) heterozygous carrier, and 14 (27.5%) homozygous mutants. In the control group, 19 (37.3%) were normal, 19 (37.3%) heterozygous carriers, and 13 (25.5%) homozygous mutants. The VKOR1-1639>A (SNP:rs9923231) mutant positivity (homozygous plus heterozygous mutant) was significantly higher in the patient group when compared to controls. There were no significant differences between patient and control groups in terms of the prognosis.

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Section: Discussionmentioning

confidence: 95%

Genetic Polymorphism of VKORC1-1639 in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency

Berber

Özdemır

Ünal

et al. 2018

Clin Appl Thromb Hemost

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“…Elde edilen sıklıklara göre olgumuzun bu her iki alele sahip olması toplumda oldukça nadir görülen bir durumdur. [8] Hastamızın öz geçmişinde varfarin kullanımı ile ilişkilendirilmiş gastrointestinal kanama öyküsü olması, düşük doz varfarin kullanmakta iken travma öyküsü olmaksızın sol alt ekstremitede hematom gelişmesi, ayrıca TDP tedavisi sonrası INR değerinin terapötik aralığa gelip varfarin verilmemesine rağmen tekrar yük-selmesi varfarine hassasiyeti artırabilecek gen polimorfizmi olasılığını düşündürdü. Nitekim hastamızın genetik analiz sonucunda CYP2C9*2*3 ve VKORC1 AA ve VKORC1 TT gen polimorfizmine sahip olduğu tespit edildi.…”

Section: Discussionunclassified

Nontraumatic muscular hematoma of lower extremity in a patient using warfarin and its relationship with VKORC1, CYP2C9 gene polymorphism

Emren¹

2015

Turk Gogus Kalp Dama

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ÖZVarfarin günümüzde en sık kullanılan oral antikoagülan ajandır. Varfarin yanıtı beslenme alışkanlıkları ve ilaçlar gibi çevresel faktörlerin yanında genetik faktörlerden de etkilenebilir ve bu da kanama riskini artırabilir. Bu yazıda, düşük doz varfarin kullanmasına rağmen sol alt ekstremitede travma olmaksızın hematom gelişen ve gen analizlerinde CYP2C9*2*3, VKORC1 AA ve VKORC1 TT gen polimorfizmi saptanan 79 yaşında bir erkek hasta sunuldu.Anah tar söz cük ler: Kanama; gen polimorfizmi; varfarin. ABSTRACTWarfarin is the most frequently used oral anticoagulant agent today. Warfarin response can be affected by environmental factors such as dietary habits and drugs as well as genetic factors, and this might increase bleeding risk. In this article, we report a 79-year-old male patient who developed nontraumatic hematoma of left lower extremity despite using low-dose warfarin, and whose genetic analyses revealed CYP2C9*2*3, VKORC1 AA and VKORC1 TT gene polymorphisms.

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“…To date, more than 58 nonsynonymous variants and a series of subvariants of CYP2C9 have been reported (see http://www.imm.ki.se/CYPalleles; access date: Nov. 2014). CYP2C9*2 (430T.C Arg 144 Cys) and CYP2C9*3 (1075A.C Ile 359 Leu) are the most commonly investigated defective alleles, including the characterization of enzymatic activity in vivo and in vitro and population distribution data (García-Martín et al, 2001;Takahashi et al, 2003;Scordo et al, 2004;Scott et al, 2007;Silan et al, 2012;Kraj cíová et al, 2014). Different populations had different frequencies of CYP2C9*2 and CYP2C9*3.…”

Section: Introductionmentioning

confidence: 99%

In Vitro and In Vivo Characterization of 13 CYP2C9 Allelic Variants Found in Chinese Han Population

Pan

Wang

et al. 2015

Drug Metab Dispos

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Our previous study detected totally 35 CYP2C9 allelic variants in 2127 Chinese subjects, of whom 21 novel alleles were reported for the first time in Chinese populations. The aim of the present study was to characterize the 13 CYP2C9 allelic variants both in vitro and in vivo. Different types of CYP2C9 variants were highly expressed in COS-7 cells, and 50 mM tolbutamide was added as the probing substrate to evaluate their metabolic abilities in vitro. Subsequently, the concentrations of tolbutamide and its metabolite in the plasma and urine within individuals with different types of genotypes were determined by HPLC to evaluate the catalytic activity of the 13 mutant CYP2C9 proteins in vivo. Our results showed that compared with *1/*1 wild-type subjects, subjects with *1/*40 genotype showed increased oral clearance (CL/F), whereas individuals with

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The prevalence of VKORC1 1639 G>A and CYP2C923 genotypes in patients that requiring anticoagulant therapy in Turkish population

Cited by 4 publications

References 28 publications

Genetic Polymorphism of VKORC1-1639 in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency

Genetic Polymorphism of VKORC1-1639 in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency

Nontraumatic muscular hematoma of lower extremity in a patient using warfarin and its relationship with VKORC1, CYP2C9 gene polymorphism

In Vitro and In Vivo Characterization of 13 CYP2C9 Allelic Variants Found in Chinese Han Population

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