Venous thromboembolism (VTE) is the third most common life-threatening cardiovascular condition i... more Venous thromboembolism (VTE) is the third most common life-threatening cardiovascular condition in the U.S. with African Americans (AAs) having a 30 - 60% higher incidence compared to other ethnicities. The mechanisms underlying population differences in the risk of VTE are poorly understood. We conducted the first genome-wide association study (GWAS) in AAs comprised of 578 subjects followed by replication of highly significant findings in an independent cohort of 159 AA subjects. Logistic regression was used to estimate the association between genetic variants and VTE risk. Through bioinformatics analysis of the top signals we identified expression quantitative trait loci (eQTLs) in whole blood and investigated the mRNA expression differences in VTE cases and controls. We identified and replicated SNPs on chromosome 20 (rs2144940, rs2567617, and rs1998081) which increased risk of VTE by 2.3 fold (p < 6 x 10(-7)). These risk variants were found in higher frequency among populati...
The Clinical Pharmacogenetics Implementation Consortium (CPIC®) establishes evidence-based guidel... more The Clinical Pharmacogenetics Implementation Consortium (CPIC®) establishes evidence-based guidelines for utilizing pharmacogenetic information for certain priority drugs. Warfarin, clopidogrel and simvastatin are cardiovascular drugs that carry strong prescribing guidance by CPIC. The respective pharmacogenes for each of these drugs exhibit considerable variability amongst different ethnic/ancestral/racial populations. Race and ethnicity are commonly employed as surrogate biomarkers in clinical practice and can be found in many prescribing guidelines. This is controversial due to the large variability that exists amongst different racial/ethnic groups, lack of detailed ethnic information and the broad geographic categorization of racial groups. Using a retrospective analysis of electronic health records (EHR), we sought to determine the degree to which self-reported race/ethnicity contributed to the probability of adverse drug reactions for these drugs. All models used individuals ...
Venous thromboembolism (VTE) is the third most common life-threatening cardiovascular condition i... more Venous thromboembolism (VTE) is the third most common life-threatening cardiovascular condition in the U.S. with African Americans (AAs) having a 30 - 60% higher incidence compared to other ethnicities. The mechanisms underlying population differences in the risk of VTE are poorly understood. We conducted the first genome-wide association study (GWAS) in AAs comprised of 578 subjects followed by replication of highly significant findings in an independent cohort of 159 AA subjects. Logistic regression was used to estimate the association between genetic variants and VTE risk. Through bioinformatics analysis of the top signals we identified expression quantitative trait loci (eQTLs) in whole blood and investigated the mRNA expression differences in VTE cases and controls. We identified and replicated SNPs on chromosome 20 (rs2144940, rs2567617, and rs1998081) which increased risk of VTE by 2.3 fold (p < 6 x 10(-7)). These risk variants were found in higher frequency among populati...
The Clinical Pharmacogenetics Implementation Consortium (CPIC®) establishes evidence-based guidel... more The Clinical Pharmacogenetics Implementation Consortium (CPIC®) establishes evidence-based guidelines for utilizing pharmacogenetic information for certain priority drugs. Warfarin, clopidogrel and simvastatin are cardiovascular drugs that carry strong prescribing guidance by CPIC. The respective pharmacogenes for each of these drugs exhibit considerable variability amongst different ethnic/ancestral/racial populations. Race and ethnicity are commonly employed as surrogate biomarkers in clinical practice and can be found in many prescribing guidelines. This is controversial due to the large variability that exists amongst different racial/ethnic groups, lack of detailed ethnic information and the broad geographic categorization of racial groups. Using a retrospective analysis of electronic health records (EHR), we sought to determine the degree to which self-reported race/ethnicity contributed to the probability of adverse drug reactions for these drugs. All models used individuals ...
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