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

## TL;DR

This paper identifies a common set of genes involved in autoimmune diseases to assess the biological relevance of polygenic risk scores.

## Contribution

The study introduces a common autoimmune gene core to evaluate and verify the biological significance of polygenic risk scores.

## Key findings

- A list of commonly altered genes across autoimmune diseases was identified.
- Clustering of PRS based on genes showed consistent disease groupings regardless of PRS size.
- PRS size does not affect the biological relevance 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. Clustering of PRS based on used genes showed that clusters of ADs remained consistent across all chosen PRS sizes. We concluded that PRS size does not have an impact on biological relevance.