Identifying a Common Autoimmune Gene Core as a Tool for Verifying Biological Significance and Applicability of Polygenic Risk Scores.

ABSTRACT: Polygenic autoimmune diseases (ADs) have several common features that are caused by a complex interplay of genetic and environmental factors. Common pathophysiological mechanisms include dysregulation of the immune system, chronic inflammation, and epigenetic changes influenced by external factors. For the prediction of the genetic predisposition of AD manifestation, polygenic risk scale (PRS), or polygenic scores (PGSs), are used. Use of PRSs faces several challenges such as applicability on a specific population, performance comparison, and estimation of biological relevance based on SNP number. We compared PRS with different numbers of SNPs and tried to find the common genetic core of ADs. Our analysis revealed a list of the most common altered genes, which we annotated and interpreted.

SUBMITTER: Shchekina VS 

PROVIDER: S-EPMC12786532 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature