IL6R Gene Polymorphic Variant rs2228145(C >A) as a Marker of Genetic Liability to Nonalcoholic Steatohepatitis in the Russian Population of Karelia

• Published in: Bulletin of experimental biology and medicine Vol. 165; no. 1; pp. 64 - 68
• Main Authors: Topchieva, L. V., Kurbatova, I. V., Dudanova, O. P., Sokolovskaya, A. A., Shipovskaya, A. A.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.05.2018; Springer; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Cell Biology; Gene polymorphism; Genes; Genetic aspects; Genetics; Genotypes; Interleukin 6; Interleukin 6 receptors; Interleukins; Internal Medicine; Laboratory Medicine; Legal liability; Leukocytes; Molecular modelling; Pathology; Peripheral blood; Plasma levels; Population genetics; RNA; nonalcoholic steatohepatitis; IL6R gene; interleukin 6; cytokine receptors; polymorphic gene variants
• ISSN: 0007-4888; 1573-8221
• DOI: 10.1007/s10517-018-4100-3

Association of IL6R gene polymorphic variant rs2228145(C>A) with the development of nonalcoholic steatohepatitis in Karelia residents is detected. The risk of nonalcoholic steatohepatitis is more than 2-fold higher in carriers of CC genotype by rs2228145 polymorphic marker than in carriers of other genotypes. Plasma levels of IL-6 and the content of IL6R gene transcripts in the peripheral blood leukocytes are higher in patients with nonalcoholic steatohepatitis than in normal subjects. No relationships between rs2228145 polymorphism and the level of IL-6 and content of IL6 and IL6R mRNA were detected. Gene IL6R polymorphic variant rs2228145(C>A) seems to be involved in genetic predisposition of the population of Karelia to nonalcoholic steatohepatitis. However, biochemical and molecular mechanisms underlying the relationship of rs2228145 with the development of nonalcoholic steatohepatitis are not yet studied.