Genetics Research
rs9934438
Population Frequencies12
African
G 0.89216A 0.10784GG 0.796811GA/AG 0.190693AA 0.012496pop=49,294
African American
G 0.88987A 0.11013GG 0.792699GA/AG 0.194347AA 0.012954pop=47,554
African Others
G 0.9546A 0.0454GG 0.909195GA/AG 0.090805AA 0pop=1,740
Asian
G 0.1477A 0.8523GG 0.023786GA/AG 0.24777AA 0.728444pop=4,036
East Asian
G 0.0995A 0.9005GG 0.013219GA/AG 0.172505AA 0.814276pop=3,026
European
G 0.606358A 0.393642GG 0.369766GA/AG 0.473184AA 0.15705pop=282,254
Latin American 1
G 0.673A 0.327GG 0.458868GA/AG 0.428198AA 0.112934pop=8,412
Latin American 2
G 0.55557A 0.44443GG 0.312117GA/AG 0.486908AA 0.200975pop=14,360
Other
G 0.60486A 0.39514GG 0.376338GA/AG 0.457042AA 0.16662pop=14,200
Other Asian
G 0.2921A 0.7079GG 0.055446GA/AG 0.473267AA 0.471287pop=1,010
South Asian
G 0.8025A 0.1975GG 0.647921GA/AG 0.309134AA 0.042945pop=5,868
Studies30
Unread Studies30 ▼
1
Warfarin remains the primary oral anticoagulant for patients with mechanical heart valves, but considerable interindividual variability in stable dose requirements poses a clinical challenge. Although VKORC1 gene polymorphisms are well-established determinants of dose variability, the impact of objectively measured medication adherence is less clear. This study aimed to evaluate the independent and combined effects of VKORC1 polymorphisms and objectively measured medication adherence on stable w…
2
Background and Objectives: The vitamin K epoxide reductase complex subunit 1 (VKORC1) plays a central role in the vitamin K cycle, which is essential for γ-carboxylation of multiple bone-related proteins. Genetic variants in VKORC1 may influence bone mineral density (BMD) and osteoporosis risk. Materials and Methods: A systematic review and meta-analysis were conducted to evaluate the association between VKORC1 polymorphisms and osteopenia and osteoporosis. Relevant studies were identified…
3
Objective:The study aims to perform a comparative analysis of population frequencies of minor alleles of polymorphisms in the genes CYP2C9 *2 (rs1799853), *3 (rs1057910), *5 (rs28371686), and *6 (rs9332131); CYP2C19 (rs3814637), VKORC1 (rs9934438), CYP4F2 (rs2108622), GGCX (rs11676382), as well as GWAS-associated variants related to resistance to vitamin K antagonists in an ethnically homogeneous Kazakh population, and to assess the distribution and perform a comparative analysis of metabolic ph…
4
Sarcoidosis is a systemic inflammatory disorder characterized by granuloma formation in various organs. It has been associated with nephrolithiasis. The vitamin K epoxide reductase complex subunit 1 (VKORC1) gene, which plays a crucial role in vitamin K metabolism, has been implicated in the activation of proteins associated with calcification, including in the forming of nephrolithiasis. This study aimed to investigate the VKORC1 C1173T polymorphism (rs9934438) in a Dutch sarcoidosis cohort, co…
5
The prevalence of VKORC1 alleles in the population of the Republic of Srpska, Bosnia and Herzegovina
Background/Aim: Warfarin is one of the most common orally prescribed anticoagulant in patients with deep venous thrombosis, myocardial or cerebral infarctions. The main side effects of non-adequate dose of these drugs are prolonged peripheral or internal bleeding. VKORC1 1173C>T polymorphism (rs9934438) is of particular importance, since carriers of non-wild type allele correlates with the lower dosage of warfarin therapy. Thus, the aim of the research was to determine the distribution of 1173C>…
6
Warfarin is a common oral anticoagulant, but the dose needed for each patient can vary by as much as 20 times due to both environmental and genetic factors. Some of the most important genetic targets of warfarin include the vitamin K epoxide reductase complex 1 (VKORC1) gene. This study investigated the genetic effect of the VKORC1 gene on warfarin response using real-time PCR in a total of 100 warfarin-treated Egyptian heart patients and 40 controls. This study confirmed a genetic association o…
7
Warfarin has a narrow therapeutic window and high intra- and inter-individual variability. Considering that many published papers on genotype-guided dosing are derived from European populations, the aim of this study was to investigate novel genetic variants associated with the variability of stable warfarin dose in the Korean population with cardiac valve replacement, using the GWAS approach. This retrospective cohort study was performed from January 1982 to December 2020 at the Severance Cardi…
8
Osteopenia and osteoporosis, are prevalent skeletal systemic conditions, cause weaker bones and an increased risk of fragility fractures. This work is aimed to evaluate the relation between bone-remolding markers and genotypes of four single nucleotide polymorphisms in young Saudi females (rs2297480 of farnesyl diphosphate synthase (FDPS), rs3736228 of Low-density lipoprotein receptor-related protein 5 (LRP5), rs1234612 of sclerostin (SOST), and rs9934438 of Vitamin K epoxide reductase comp…
9
Warfarin is the most recommended oral anticoagulant after artificial mechanical valve replacement therapy. However, the narrow therapeutic window and varying safety and efficacy in individuals make dose determination difficult. It may cause adverse events such as hemorrhage or thromboembolism. Therefore, advanced algorithms are urgently required for the use of warfarin. To establish a warfarin dose model for patients after prosthetic mechanical valve replacement in southern China in combination…
10
Warfarin has been widely used as an oral anticoagulant agent. In past, efforts have been done to study the contribution of genetic variation on warfarin dose requirements. The possible therapeutic dose determination of warfarin is very challenging, i.e., extremely low dose leading to unusable antithrombotic therapy or high dose causes particularly bleeding complications. Our study aimed to investigate these observations in more detail, we determined the correlation of interleukin-6 (IL-6), cyclo…
11
The left ventricular assist device (LVAD) is one of the alternative treatments for heart failure (HF) patients. However, LVAD support is followed by thrombosis, and bleeding complications which are caused by high non-physiologic shear stress and antithrombotic/anticoagulant therapy. A high risk of complications occurs in the presence of the genotype polymorphisms which are involved in the coagulation system, hemostasis function and in the metabolism of the therapy. The aim of the study was to in…
12
To date, there has been no genomewide association study (GWAS) from the Middle East and North African (MENA) region to identify genetic variants associated with warfarin dose variability using this approach. In this study, we aimed to conduct the first GWAS of warfarin dose requirements in patients from the MENA region. A total of 132 Qatari (discovery) and 50 Egyptians (replication) were genotyped using Illumina Multi-Ethnic Global BeadChip Array. A GWAS was performed on log-transformed weekly…
13
To analyze functions of corneal biomechanical properties (CBP)-related variants as corneal resistance factor (CRF) and corneal hysteresis (CH). Related single nucleotide polymorphisms (SNPs) and genes were identified from NHGRI-EBI GWAS catalog, GWASdb v2 and possible data in published studies. HaploReg v4.1 was used to find linkage SNPs. Functional annotations were performed by GWAVA, CADD and RegulomeDB. GTEx Portal database was used to find out expression quantitative trait locus (eQTL) assoc…
14
Aims: To describe the diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans. Materials & methods: Genotype data were filtered out from an anonymized database of 400 Sri Lankans, and minor allele frequencies (MAF) were calculated. Variants of CYP2C9, VKORC1 and CYP4F2 genes were studied. Results: Overall, CYP2C9*2 and CYP2C9*3 alleles had MAFs of 2.25% (95% CI: 0.80-3.70) and 10.38% (95% CI: 7.50-13.50), respectively. CYP2C9*11 and CYP2C9*14 alleles had MAFs of 0.…
15
Warfarin is a commonly prescribed anticoagulant for valvular heart disease that plays an important role in clinical management to prevent thrombotic events. In this study, we aim to perform a comprehensive study to investigate the genetic biomarkers of stable warfarin dose in the Han Chinese population. We performed an integrative study on 211 Han Chinese patients with valvular heart disease. A total of 40 single nucleotide polymorphisms (SNPs) in 10 important genes (CYP2C9, VKORC1, ABCB1, CYP4F…
16
This prospective, single-blind, randomized study was designed to evaluate the effect of genotype-based warfarin dosing compared with standard warfarin dosing in Korean patients with mechanical cardiac valves. Patients were assigned to either the genotype-based dosing group or the standard dosing group using stratified block randomization. The genotype-based dosing equation was adopted from a previous study which included VKORC1 rs9934438, CYP2C9 rs1057910, CYP4F2 rs2108622, and age. Primary outc…
17
Aim: The role of mirSNPs in the 3'UTR of VKORC1, CYP2C9 and CYP4F2 genes that could influence warfarin dose variability via a discrete miRNA-mediated mechanism remains unexplained. Methods: Genotypic data in the 1000 Genomes dataset were analyzed for pair-wise linkage disequilibrium and allelic enrichment. Results: MirSNP rs7294 in the 3'UTR of VKORC1 gene displayed varying strengths of linkage disequilibrium with rs9923231 and rs9934438 across populations, albeit consistently associated with hi…
18
Warfarin is the most commonly used oral anticoagulant in sub-Saharan Africa. Dosing is challenging due to a narrow therapeutic index and high interindividual variability in dose requirements. To evaluate the genetic factors affecting warfarin dosing in black-Africans, we performed a meta-analysis of 48 studies (2,336 patients). Significant predictors for CYP2C9 and stable dose included rs1799853 (CYP2C9*2), rs1057910 (CYP2C9*3), rs28371686 (CYP2C9*5), rs9332131 (CYP2C9*6), and rs28371685 (CYP2C9…
19
The main objective of this study is to assess the effects of CYP2C9 and VKORC1 polymorphisms on warfarin sensitivity and responsiveness in a Jordanian population during the stabilization phase of treatment. This study was conducted at the Queen Alia Heart Institute (QAHI) anticoagulation clinic in Amman, Jordan. We assessed three CYP2C9 (rs1799853, rs1057910, rs4086116) and four VKORC1 (rs10871454, rs8050894, rs9934438, rs17708472) polymorphisms in 139 Jordanian cardiovascular patients. Demograp…
20
Here, we describe a Dutch family with idiopathic pulmonary fibrosis (IPF). We hypothesized that there might be an association between the presence of Vitamin K epoxide reductase complex 1 (VKORC1) and/or cytochrome P450 2C9 (CYP2C9) variant alleles and the early onset of IPF in the members of this family. VKORC1 (rs9923231 and rs9934438) and CYP2C9 (rs1799853 and rs1057910) were genotyped in this family, which includes a significant number of pulmonary fibrosis patients. In all family members, a…
21
It was aimed to underline the importance and explain the meaning of genetic testing in warfarin dosing and investigate and evaluate the contributions of the CYP2C9, VKORC1, and CYP4F2 variants in a Turkish population. Two hundred patients were genotyped for CYP2C9 (rs1799853, rs1057910 and rs56165452), VKORC1 (rs9934438, rs8050894, rs9923231, rs7294 and rs2359612) and CYP4F2 (rs2108622), yet, only 127 patients were found suitable for further evaluation in terms of their personal response to warf…
22
This study aimed to assess the relationship between bone mineral density and genotypes of four polymorphisms in previously detected osteoporosis-candidate genes (FDPS rs2297480, LRP5 rs3736228, SOST rs1234612, VKORC1 rs9934438) in postmenopausal Romanian women with primary osteoporosis. An analytical, prospective, transversal, observational, case-control study on 364 postmenopausal Romanian women was carried out between June 2016 and August 2017 in Cluj Napoca, Romania. Clinical data and blood s…
23
This study aimed to determine the association between hepatocyte nuclear factor 4 alpha (HNF4A) polymorphisms and bleeding complications in patients on warfarin with international normalized ratios between 2.0 and 3.0 after cardiac valve replacement. Nineteen single nucleotide polymorphisms of HNF4A in addition to VKORC1 rs9934438 and CYP2C9 rs1057910 were analyzed. Univariate and multivariate analyses were conducted to evaluate associations between genetic polymorphisms and bleeding risk. Attri…
24
Purpose: Variability in response to warfarin is one of the main obstacles challenging its use in clinical practice. Vitamin K epoxide reductase complex (VKORC) is the target enzyme of warfarin, and variations in the form of single nucleotide polymorphisms (SNPs) in VKORC1, coding for this enzyme, are known to cause resistance to warfarin treatment. This study aimed to explore VKORC1 variants in Emirati patients receiving warfarin treatment and to correlate their genotypes at the studied SNPs to…
25
Acenocoumarol is widely prescribed for patients with risk of thromboembolism in Vietnam. A lot of study revealed that genetic polymorphisms of CYP2C9 and VKORC1 genes are the strongest genetic factors that have a high-impact upon the response of acenocoumarol. Therefore, in this study, we established the genotyping method of CYP2C9 and VKORC1 on Vietnamese cardiac valve replacement patients treated with acenocoumarol. Main method included DNA extraction from peripheral blood samples, polymerase…
26
The Establishing the Genotyping Method for rs1057910 on CYP2C9 and rs9923231; rs9934438 on VKORC1 in blood samples of Cardiac Valve Replacement Patients treated with acenocoumarol
27
Warfarin is an oral anticoagulant frequently used in the treatment of different cardiovascular diseases. Genetic polymorphisms in the CYP2C9 and VKORC1 genes have produced variants with altered catalytic properties. A total of 212 cardiovascular patients were genotyped for 17 Single Nucleotide Polymorphisms (SNPs) within the CYP2C9 and VKORC1 genes. This study confirmed a genetic association of the CYP2C9*3 and VKORC1 rs10871454, rs8050894, rs9934438, and rs17708472 SNPs with warfarin sensitivit…
28
Background:The hepatic artery infusion (HAI) of irinotecan, oxaliplatin and 5-fluorouracil with intravenous cetuximab achieved outstanding efficacy in previously treated patients with initially unresectable liver metastases from colorectal cancer. This planned study aimed at the identification of pharmacogenetic predictors of outcomes.Methods:Circulating mononuclear cells were analysed for 207 single-nucleotide polymorphisms (SNPs) from 34 pharmacology genes. Single-nucleotide polymorphisms pass…
29
Genetic and Non-Genetic Factors Affecting the Quality of Anticoagulation Control and Vascular Events in Atrial Fibrillation.
30
Effect of CYP2C9, VKORC1, CYP4F2 and GGCX genetic variants on warfarin maintenance dose and explicating a new pharmacogenetic algorithm in South Indian population
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