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J Pediatr Genet 2021; 10(02): 098-104
DOI: 10.1055/s-0040-1714697
Original Article

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

Ivan Y. Bakutenko 
1   Laboratory of Molecular Basis of Genome Stability, Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Republic of Belarus
,
Irena D. Hileuskaya 
1   Laboratory of Molecular Basis of Genome Stability, Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Republic of Belarus
,
Natalia V. Nikitchenko
1   Laboratory of Molecular Basis of Genome Stability, Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Republic of Belarus
,
Elena V. Sechko
2   1st Department of Childhood Diseases, Belarusian State Medical University, Minsk, Republic of Belarus
,
Alexej M. Tchitchko
2   1st Department of Childhood Diseases, Belarusian State Medical University, Minsk, Republic of Belarus
,
Galina M. Batyan
2   1st Department of Childhood Diseases, Belarusian State Medical University, Minsk, Republic of Belarus
,
Alexander V. Sukalo
2   1st Department of Childhood Diseases, Belarusian State Medical University, Minsk, Republic of Belarus
,
Nadezhda I. Ryabokon 
1   Laboratory of Molecular Basis of Genome Stability, Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Republic of Belarus
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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).




Publikationsverlauf

Eingereicht: 15. April 2020

Angenommen: 10. Juni 2020

Artikel online veröffentlicht:
04. August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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