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

Author:

Bakutenko Ivan Y.1ORCID,Hileuskaya Irena D.1ORCID,Nikitchenko Natalia V.1,Sechko Elena V.2,Tchitchko Alexej M.2,Batyan Galina M.2,Sukalo Alexander V.2,Ryabokon Nadezhda I.1ORCID

Affiliation:

1. Laboratory of Molecular Basis of Genome Stability, Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Republic of Belarus

2. 1st Department of Childhood Diseases, Belarusian State Medical University, Minsk, Republic of Belarus

Abstract

AbstractThe 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

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