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Research Paper|Volume 8, Issue 11|pp 2734—2746

Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases

Fei-Feng Li1,2, Xi-Dong Zhu3, Peng Yan4, Mei-Hua Jin3, Hui Yue3, Qiong Zhang5, Jin Fu3, Shu-Lin Liu1,2,6
  • 1Systemomics Center, College of Pharmacy, and Genomics Research Center (one of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin Medical University, Harbin, China
  • 2Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China
  • 3Department of Neurology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China
  • 4Department of Colorectal Surgery of the Second Affiliated Hospital, Harbin Medical University, Harbin, China
  • 5Department of Antibiotics, Heilongjiang province food and drug inspection testing Institute, Harbin, China
  • 6Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, Canada

* * Equal contribution

Received: June 15, 2016Accepted: November 7, 2016Published: November 26, 2016
https://doi.org/10.18632/aging.101058

Abstract

Multiple sclerosis is among the most serious inflammatory demyelinating diseases (IDD). Interleukin-23A (IL23A) regulates and coordinates the activities of immune cells by interacting with its receptor IL23R and plays key roles in the pathogenesis of immune inflammatory diseases. IDD, deemed to be a kind of autoimmune diseases, may involve IL23A in the pathogenesis. The aim of this work was to validate the hypothesized involvement of IL-23A and its receptor in IDD. We sequenced the IL-23A and IL-23R genes for 206 Chinese Han IDD patients and evaluated SNPs within or near those genes. The serum levels of IL23A in IDD participants were analyzed using ELISA. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 19.0). The Hardy-Weinberg equilibrium test of the population was carried out using online software OEGE. Three variants rs2066808, rs2371494, rs11575248 in IL-23A gene and one variant rs1884444 in IL-23R gene were demonstrated to be associated with the risk of MS or other IDD diseases, and the expression level of serum IL-23A in the MS patients was also altered. We conclude that variants in IL-23A and IL-23R genes were associated with the risk of MS or other IDD diseases.