Open AccessPolymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children
Author(s) -
Ivan Y. Bakutenko,
Irena D. Hileuskaya,
Natalia V. Nikitchenko,
Elena V. Sechko,
А. М. Tchitchko,
Galina M. Batyan,
А. В. Сукало,
Nadezhda I. Ryabokon
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1714697
Subject(s) - immunology , medicine , pathogenesis , kawasaki disease , autoimmune disease , single nucleotide polymorphism , arthritis , rheumatic disease , autoimmunity , gene , disease , rheumatology , genotype , genetics , antibody , rheumatoid arthritis , biology , artery
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.