Source Themes

Genetic Admixture and Survival in Diverse Populations with Pulmonary Arterial Hypertension

Limited information is available on racial/ethnic differences in pulmonary arterial hypertension (PAH). Determine effects of race/ethnicity and ancestry on mortality and disease outcomes in diverse patients with PAH. Group 1 PAH patients were …

Psychological and Genetic Predictors of Pain Tolerance

Experimental pain models in humans have shown potential associations between genetic polymorphisms and pain measures, but associations between genetic variants and pain tolerance have not been replicated. Genetic studies simultaneously measure psychological factors, which can also influence sensitivity or confound the relationship between genetic polymorphisms, and pain measurement.

Influence of HLA alleles and KIR types on Heparin-Induced Thrombocytopenia

The HLA‐DRB3*01:01 allele was identified as a potential risk factor for HIT. This class II HLA gene and allele represent biologically plausible candidates for influencing HIT pathogenesis. We found limited evidence of the role of KIR types in HIT pathogenesis. Replication and further study of the HLA‐DRB3*01:01 association is necessary.

Warfarin Pharmacogenomics in Diverse Populations

Genotype‐guided warfarin dosing algorithms are a rational approach to optimize warfarin dosing and potentially reduce adverse drug events. Despite differing frequencies of variants by race/ethnicity, most evidence in diverse populations evaluates variants that are most common in populations of European ancestry. Algorithms that do not include variants important across race/ethnic groups are unlikely to benefit diverse populations. Careful consideration of race/ethnicity and additional evidence focused on improving warfarin dosing algorithms across race/ethnic groups will be necessary for successful clinical implementation of warfarin pharmacogenomics

Comparison of HLA Allelic Imputation Programs

Imputation of human leukocyte antigen (HLA) alleles from SNP-level data is attractive due to importance of HLA alleles in human disease, widespread availability of genome-wide association study (GWAS) data, and expertise required for HLA sequencing. We compared HLA imputation results of HIBAG, SNP2HLA, and HLA*IMP:02 to sequenced HLA alleles in 3,265 samples from BioVU, a de-identified electronic health record database coupled to a DNA biorepository. Our findings provide guidance on the best use of HLA imputation methods and elucidate their limitations.