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Updated: Jan 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Identifying a Common Autoimmune Gene Core as a Tool for Verifying Biological Significance and Applicability of
Victoria Sergeevna Shchekina1,2, Nikita Aleksandrovich Batashkov1,2, Anna Arkadievna Maznina1
1Federal State Budgetary Scientific Institution "Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies", Moscow 125315, Russia.
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.
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