Comprehensive pharmacogenomics profiling of the Serbian population

Area of Science:

• Genetics
• Pharmacogenomics
• Personalized Medicine

Background:

• Pharmacogenomics enables personalized treatment by predicting drug response from genetic profiles.
• High-throughput sequencing facilitates simultaneous variant identification in pharmacogenes.
• Limited ethnic pharmacogenetic data hinders clinical integration.

Purpose of the Study:

• To establish the most comprehensive pharmacogenomics landscape for the Serbian population.
• To identify ethnic-specific pharmacogenetic variations and their clinical implications.

Main Methods:

• Genomic data from 881 Serbian individuals analyzed using clinical and whole exome sequencing.
• In-house pipeline for sequence alignment and variant calling.
• PharmCAT and Stargazer tools used for pharmacogene star allele and phenotype annotation.

Main Results:

• Serbian population shows highest differentiation compared to worldwide populations.
• Key pharmacogenes (CYP2B6, NAT2, SLCO1B1, UGT1A1, VKORC1) exhibit significantly different allele and phenotype frequencies in Serbia compared to Europe.
• Population differentiation quantified using Wright's fixation index.

Conclusions:

• Significant pharmacogenetic phenotype variations in Serbia impact drug response (e.g., statins, antidepressants).
• Integrating pharmacogenetic data into genetic reports is recommended for the Serbian population.
• Pharmacogenetic testing can be implemented via analysis of existing sequencing data.