Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.

ABSTRACT: Genetic variation is partly responsible for variability in drug response across populations. However, the full catalogue of pharmacogenetic variants and their distribution are yet to be established, thus posing challenges in implementing individualised medicine in understudied populations. This study aimed to characterise variation in key drug response genes across founder populations from the Northern Isles of Scotland. We analysed whole genome sequence datasets from 498 Shetlanders and 1372 Orcadians, the majority of whom are research participants in the Viking Genes programme, and compared the genetic variation in 41 selected pharmacogenes with observed distributions in other European datasets. From this gene-set, we present frequencies of known and potentially novel star alleles (haplo

SUBMITTER: Twesigomwe D 

PROVIDER: S-EPMC12658080 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature