D1.437 - Frequency of SNPs associated with pharmacogenetic phenotypes in Asthma in two Colombian populations

Asthma is highly prevalent chronic non-communicable disease of the airways. Poor control of their symptoms, as well as adverse reactions to the medication used for their treatment, have a negative impact on the patient’s health and the economy. Pharmacogenetics makes it possible to predict responses to pharmacological treatment of asthma using genetic markers dispersed in human genome. The objective of this study is to establish the frequency of SNPs related to the response to pharmacological treatment of asthma in two Colombian populations.

We searched for the term “Asthma” in PharmGKB and extracted all variant annotations (n = 308). Our inclusion criteria were: 1) statistically significant results, 2) a report of a single risk allele by association, 3) a reported phenotype category, and 4) a reported frequency of the risk allele in populations with whole genome sequencing data at CÓDIGO(King Jordan, et al. Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO). Georgia Institute of Technology. Disponible en: video abstract , which were Palenque (PLQ) (N: 34, 84.1% African ancestry) and Antioquia (ATQCES) (N: 96, 54.5% Caucasian, 39.5% Native American) ancestry)(ATQCES). Data were analyzed using R software.

A total 77 SNPs associated with all pharmacogenetic phenotypes related to dose, efficacy and toxicity in asthma were found in the two Colombian populations (PLQ, and ATQCES). Most of the SNPs had a frequency greater than or equal to 30% and 50% in Antioquia and Palenqueros, respectively.

We founded 77 SNPs associated with pharmacogenetic phenotypes of asthma are present in the two Colombian populations with different ancestry. Our results open the possibility of using these tools in precision medicine in a disease of high prevalence and economic impact such as asthma.