Genetics Research
rs9923231
Gene: VKORC1 — Vitamin K Epoxide Reductase Complex Subunit 1
Chr 16:31096368
16p11.2
2KB upstream variant
Population Frequencies12
African
C 0.88722T 0.11278CC 0.788282CT/TC 0.197875TT 0.013843pop=32,940
African American
C 0.88533T 0.11467CC 0.784885CT/TC 0.200886TT 0.014229pop=32,048
African Others
C 0.955T 0.045CC 0.910314CT/TC 0.089686TT 0pop=892
Asian
C 0.1519T 0.8481CC 0.022874CT/TC 0.258081TT 0.719045pop=4,022
East Asian
C 0.1065T 0.8935CC 0.013193CT/TC 0.186675TT 0.800132pop=3,032
European
C 0.608816T 0.391184CC 0.372686CT/TC 0.47226TT 0.155054pop=259,264
Latin American 1
C 0.6721T 0.3279CC 0.45786CT/TC 0.428534TT 0.113606pop=7,570
Latin American 2
C 0.5551T 0.4449CC 0.311947CT/TC 0.486312TT 0.201741pop=14,246
Other
C 0.61268T 0.38732CC 0.386291CT/TC 0.45277TT 0.160939pop=10,650
Other Asian
C 0.291T 0.709CC 0.052525CT/TC 0.476768TT 0.470707pop=990
South Asian
C 0.802T 0.198CC 0.64732CT/TC 0.309321TT 0.04336pop=5,858
Studies20
Unread Studies20 ▼
1
National genome projects (NGPs) are increasingly shaping precision medicine by improving representation of population-specific genetic diversity. This review compiles findings from NGPs across Asia and Africa, regions that remain underrepresented in global genomic databases despite their extensive demographic and genetic diversity. A total of 53 studies from 24 countries were identified to understand (1) the genomic approach utilized, (2) novel findings that have emerged, and (3) strategies for…
2
Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans.
Genetic variation contributes substantially to interindividual and interpopulation differences in drug response, yet most pharmacogenomic studies remain biased toward European populations. Here, we systematically assessed pharmacogenomic variation across East Asians (EAS) and Europeans (EUR) using public genomic datasets and investigated the potential evolutionary forces shaping these differences. Our analyses revealed that EAS populations generally harbor a lower frequency of pharmacogenomic va…
3
Pharmacogenomics (PGx) enables personalized therapy by considering individual genetic variation. However, North African populations remain underrepresented in global PGx databases despite their substantial and unique genetic diversity, which can strongly influence drug response. This study characterizes the pharmacogenomic landscape of 109 Moroccan individuals using whole-genome sequencing data. Across 8289 candidate pharmacogenes, we identified 129,021 novel variants, predominantly within DPYD,…
4
Pharmacogenomic (PGx) variants can influence drug efficacy and safety, yet their prevalence in Latin American populations with cancer is underexplored. Our aim is to characterize the frequency and phenotypic distribution of actionable pharmacogenes in Brazilian patients with metastatic prostate cancer (MPC) and Human Epidermal Growth Factor Receptor 2 (HER2)-positive breast cancer (BC). This analysis included 452 patients (259 BC, 193 MPC) from a multicenter study across 19 Brazilian sites. Exom…
5
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…
6
Background and Objectives: The aim of this study was to evaluate the potential predictive value of VKORC1, CYP4F2, and GGCX polymorphisms, as well as other clinical and demographic factors, for 5-year mortality in patients with acute ischemic stroke (AIS). Materials and Methods: The study enrolled 252 patients who were consecutively hospitalized for AIS. Demographic data, comorbidities, and laboratory tests were collected. Genotyping of the VKORC1 rs9923231 (-1639G > A; VKORC1*2), CYP4F2 rs21…
7
The coagulation cascade is thought to contribute to cancer progression. Although in vitro studies suggest that anticoagulants, such as warfarin, might reduce cancer progression, epidemiological data indicate that warfarin users may have a higher risk of cancer mortality. However, single nucleotide polymorphisms (SNPs) that influence warfarin dosing might affect this association. We investigated the risk associations between warfarin use and prostate cancer (PCa) survival, considering the SNP gen…
8
The safety or efficacy of drugs may be affected by the genetic variability of CYP2C9 or VKORC1. Patients may be at increased risk of drug-related toxicities, for example, bleeding events, if they carry CYP2C9*2 (rs1799853), CYP2C9*3 (rs1057910), or VKORC1 c.-1639G>A (rs9923231) genetic variants. The allele frequencies of CYP2C9*2, *3, and VKORC1 c.-1639G>A were obtained from the 1000 Genomes Project Phase III in line with Fort Lauderdale principles. Predictive risk phenotypes and correlati…
9
Warfarin is the most widely used oral anticoagulant in clinical practice. The cytochrome P450 2C9 (CYP2C9), vitamin K epoxide reductase complex 1 (VKORC1), and cytochrome P450 4F2 (CYP4F2) genotypes are associated with warfarin dose requirements in China. Accurate genotyping is vital for obtaining reliable genotype-guided warfarin dosing information. The current method for individualized dosing gene polymorphism detection for warfarin has the disadvantages of being easily contaminated, time-cons…
10
Renal function significantly influences the appropriate warfarin dosage. However, studies investigating the impact of genetic factors on warfarin dosage, considering renal function, are limited. This study aimed to assess the role of genetic polymorphisms in VKORC1, CYP2C9, CYP2C19, CYP4F2, GGCX, and APOE in warfarin dosage adjustment considering renal function. A total of 108 outpatients receiving warfarin treatment with controlled prothrombin time-targeted international normalized ratio (1.5-3…
11
Empirical use of pharmacogenetic test(PGT) is advocated for many drugs, and resource-rich setting hospitals are using the same commonly. The clinical translation of pharmacogenetic tests in terms of cost and clinical utility is yet to be examined in hospitals of low middle income countries (LMICs). The present study assessed the clinical utility of PGT by comparing the pharmacogenetically(PGT) guided- versus standard of care(SOC)- warfarin therapy, including the health economics of the two warfa…
12
Genetic variation has been a major contributor to interindividual variability of warfarin dosage requirement. The specific genetic factors contributing to warfarin bleeding complications are largely unknown, particularly in Chinese patients. In this study, 896 Chinese patients were enrolled to explore the effect of CYP2C9 and VKORC1 genetic variations on both the efficacy and safety of warfarin therapy. Univariate analyses unveiled significant associations between two specific single nucleotide…
13
Left ventricular assist device (LVAD) implantation is one of the mechanical circulatory support (MCS) treatments for advanced heart failure (HF) patients. MCS has emerged as a lifesaving therapy that improves patients' quality of life. However, MCS remains limited by a paradoxical coagulopathy accompanied by thrombosis and bleeding. The mechanisms of MCS thrombosis are increasingly being defined, but MCS-related bleeding, which is related to shear-mediated alteration of platelet function, remain…
14
Vitamin K epoxide reductase complex subunit 1 (VKORC1) gene encodes a key enzyme with multiple cellular activities, namely, the reduction of vitamin K to its active form. VKORC1-1639G>A (rs9923231) is a common single nucleotide polymorphism with a crucial impact on warfarin dosing and possibly other physiological functions. This study aimed at investigating the frequencies of VKORC1-1639G>A alleles and genotypes in Syrian healthy subjects and patients on warfarin for different indications.…
15
Acute ischemic stroke is a major cause of morbidity and mortality worldwide, and genetic factors play a role in the risk of stroke. Single nucleotide polymorphisms (SNPs) in the VKORC1, CYP4F2, and GGCX genes have been linked to clinical outcomes, such as bleeding and cardiovascular diseases. This study aimed to investigate the association between specific polymorphisms in these genes and the risk of developing the first episode of acute ischemic stroke in patients without a known embolic source…
16
One 59-year-old female patient with deep venous thrombosis (DVT) and pulmonary embolism (PE) was treated with 6 mg warfarin once daily as an anticoagulant. Before taking warfarin, her international normalized ratio (INR) was 0.98. Two days after warfarin treatment, her INR did not change from baseline. Due to the high severity of the PE, the patient needed to reach her target range (INR goal = 2.5, range = 2~3) rapidly, so the dose of warfarin was increased from 6 mg daily to 27 mg daily. Howeve…
17
The anticoagulation activity of warfarin in populations with CYP2C9, VKORC1, and CYP4F2 variants differs between individuals and is correlated with poor international normalized ratio (INR) control. Pharmacogenetics-guided warfarin dosing has been successfully developed for patients with genetic variations in recent years. However, few real-world data have been used to investigate the INR and warfarin dosage and the time to target INR. This study examined the largest collection of genetic and cl…
18
Purpose: To investigate whether interindividual variability in the CYP2C9 (*2 and *3 alleles) and VKORC1 (rs9923231) genes is associated with increased risk of upper gastrointestinal bleeding (UGIB) in users of non-steroidal anti-inflammatory drugs (NSAIDs) or low-dose aspirin (LDA). Methods: A full case-control study including 200 cases of patients diagnosed with UGIB and 706 controls was conducted in a Brazilian hospital complex. To perform an analysis of NSAIDs dose-effect, the defined daily…
19
Pharmacogenomics (PGx) plays a central role in the selection of targeted therapies that underpins precision-medicine. We investigated the prevalence of three important pharmacogenetic variants of VKORC1, CYP2C9, and CYP3A5 genes among Pakistani populations. A total of 1104 individuals were included representing thirteen major ethnicities. Samples were genotyped by using PCR-RFLP analysis. The allelic and genotypic frequencies of the three SNV's were calculated and were compared with the world's…
20
Warfarin is an oral anticoagulant commonly used for treatment and prophylaxis against thromboembolic events. Warfarins's narrow therapeutic index window is one of the main challenges in clinical practice; thus, it requires frequent monitoring and dose adjustment to maintain patients' therapeutic range. Warfarin dose variation and response are attributed to several inter-and intra-individuals factors, including genetic variants in enzymes involved in warfarin pharmacokinetics (PK) and pharmacodyn…
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