Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children

Abstract

The study aimed to assess the involvement of three proteasomal genes, PSMA6, PSMC6, and PSMA3, in autoimmune pathogenesis by analyzing associations between single nucleotide polymorphisms and systemic rheumatic diseases with a different autoimmune component: juvenile idiopathic arthritis (JIA), the juvenile form of systemic lupus erythematosus, and Kawasaki's disease (KD). Our results showed that the PSMA6 (rs1048990) polymorphism can be a risk factor for JIA (false discovery rate q ≤ 0.090), while PSMA3 (rs2348071) has a tendency to be nonspecific and is shared with JIA and other autoimmune diseases, including KD, an illness with very low autoimmune activity and high autoinflammation.

Keywords

systemic autoimmune diseases - proteasomal gene - polymorphism - risk factor

Note

This work was carried out in the framework of the project “Molecular genetic assessment of autoimmune diseases risk” as part of the Research Technical Program “DNA identification” (2017–2021).

Publication History

Received: 15 April 2020

Accepted: 10 June 2020

Article published online:
04 August 2020

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