title: Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases.
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 theIL-23AandIL-23Rgenes 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 inIL-23Agene and one variant rs1884444 inIL-23Rgene 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 inIL-23AandIL-23Rgenes were associated with the risk of MS or other IDD diseases.
authors.affiliation: Systemomics Center, College of Pharmacy, and Genomics Research Center (one of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin Medical University, Harbin, China.|Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China.
authors.forename: Fei-Feng
authors.initials: FF
authors.lastname: Li
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Xi-Dong
authors.initials: XD
authors.lastname: Zhu
authors.affiliation: Department of Colorectal Surgery of the Second Affiliated Hospital, Harbin Medical University, Harbin, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Yan
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Mei-Hua
authors.initials: MH
authors.lastname: Jin
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Yue
authors.affiliation: Department of Antibiotics, Heilongjiang province food and drug inspection testing Institute, Harbin, China.
authors.forename: Qiong
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Fu
authors.affiliation: Systemomics Center, College of Pharmacy, and Genomics Research Center (one of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin Medical University, Harbin, China.|Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China.|Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, Canada.
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002681:China; D003711:Demyelinating Diseases / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D053760:Interleukin-23 Subunit p19 / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D055815:Young Adult
chemical_list: C508840:IL23A protein, human; C515500:IL23R protein, human; D053760:Interleukin-23 Subunit p19; D018123:Receptors, Interleukin
keywords: IDD; SNP; gene expression level; interleukin-23A; multiple sclerosis