An interleukin 12 B single nucleotide polymorphism increases IL-12p40 production and is associated with increased disease susceptibility in patients with relapsing-remitting multiple sclerosis

Neurological Research

Volumn 39, Issue 5, 2017, Pages 435-441

  Javan, Mohammad Reza ^a,b   Shahraki, Sarieh ^a   Safa, Amin ^a   Zamani, Mohammad Reza ^c,d   Salmaninejad, Arash ^e   Aslani, Saeed ^c  

^a ZABOL UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d UNIVERSAL SCIENTIFIC EDUCATION AND RESEARCH NETWORK USERN   (Iran)

^e MASHHAD UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

gene expression; IL12B; IL23R; Multiple sclerosis; SNP

Indexed keywords

COMPLEMENTARY DNA; INTERLEUKIN 12P40; IL12B PROTEIN, HUMAN; MESSENGER RNA;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; CYTOKINE PRODUCTION; DISEASE PREDISPOSITION; EXPANDED DISABILITY STATUS SCALE; FEMALE; GENE; GENE EXPRESSION ASSAY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INTERLEUKIN 12P40 GENE; INTERLEUKIN 23R GENE; MAJOR CLINICAL STUDY; MALE; MRNA EXPRESSION ASSAY; MULTIPLE SCLEROSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; ALLELE; DISABILITY; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; RETROSPECTIVE STUDY; STATISTICS;

ADULT; ALLELES; CASE-CONTROL STUDIES; DISABILITY EVALUATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; INTERLEUKIN-12 SUBUNIT P40; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS, RELAPSING-REMITTING; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; RNA, MESSENGER; STATISTICS AS TOPIC;

EID: 85014610256     PISSN: 01616412     EISSN: 17431328     Source Type: Journal    
DOI: 10.1080/01616412.2017.1301623     Document Type: Article

References (43)

1. Goldenberg MM. Multiple sclerosis review. Pharm Ther. 2012;37:175–184.
2. Simpson S, Blizzard L, Otahal P, et al. Latitude is significantly associated with the prevalence of multiple sclerosis:a meta-analysis. J Neurol Neurosurg Psychiatry 2011;80:1132–1141.
3. Khondkarian O, Zavalishin I, Nevskaia O. Classification of multiple sclerosis. Zhurnal nevropatologii i psikhiatrii imeni SS Korsakova (Moscow, Russia:1952) 1982;83:164–166.
4. Noseworthy JH. Progress in determining the causes and treatment of multiple sclerosis. Nature. 1999;399:A40–A47.10.1038/399a040
5. Compston A, McDonald I, Noseworthy J, et al. McAlpine’s multiple sclerosis. London:Churchill Livingstone, Elsevier Health Sciences; 2006.
6. Miller D, Barkhof F, Montalban X, et al. Clinically isolated syndromes suggestive of multiple sclerosis, part I:natural history, pathogenesis, diagnosis, and prognosis. Lancet Neurol. 2005;4:281–288.10.1016/S1474-4422(05)70071-5
7. Aslani S, Jafari N, Javan MR, et al. Epigenetic modifications and therapy in multiple sclerosis. NeuroMol Med. 2016;1–13.
8. Hemmer B, Kerschensteiner M, Korn T. Role of the innate and adaptive immune responses in the course of multiple sclerosis. Lancet Neurol. 2015;14:406–419.10.1016/S1474-4422(14)70305-9
9. Zamani MR, Aslani S, Salmaninejad A, et al. PD-1/PD-L and autoimmunity:a growing relationship. Cell Immunol. 2016;310:27–41.10.1016/j.cellimm.2016.09.009
10. Tan ZY, Bealgey KW, Fang Y, et al. Interleukin-23:immunological roles and clinical implications. Int J Biochem Cell Biol. 2009;41:733–735.10.1016/j.biocel.2008.04.027
11. Iwakura Y, Ishigame H. The IL-23/IL-17 axis in inflammation. J Clin Invest. 2006;116:1218–1222.10.1172/JCI28508
12. Parham C, Chirica M, Timans J, et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rβ1 and a novel cytokine receptor subunit, IL-23R. J Immunol. 2002;168:5699–5708.10.4049/jimmunol.168.11.5699
13. Cargill M, Schrodi SJ, Chang M, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007;80:273–290.10.1086/511051
14. Capon F, Di Meglio P, Szaub J, et al. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet. 2007;122:201–206.10.1007/s00439-007-0397-0
15. Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006;314:1461–1463.10.1126/science.1135245
16. Glas J, Seiderer J, Wagner J, et al. Analysis of IL12B gene variants in inflammatory bowel disease. PLoS One. 2012;7:e34349.10.1371/journal.pone.0034349
17. Karaderi T, Harvey D, Farrar C, et al. Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case–control study and meta-analysis of published series. Rheumatology. 2009;48:386–389.10.1093/rheumatology/ken501
18. Wong R-H, Wei JC-C, Huang C-H, et al. Association of IL-12B genetic polymorphism with the susceptibility and disease severity of ankylosing spondylitis. J. Rheumatol. 2012;39:135–140.10.3899/jrheum.110613
19. Van Veen T, Crusius JBA, Schrijver HM, et al. Interleukin-12p40 genotype plays a role in the susceptibility to multiple sclerosis. Ann Neurol. 2001;50:275–275.10.1002/ana.1107
20. Alloza I, Heggarty S, Goris A, et al. Interleukin-12 p40 polymorphism and susceptibility to multiple sclerosis. Ann Neurol. 2002;52:524–525.10.1002/(ISSN)1531-8249
21. Illes Z, Safrany E, Peterfalvi A, et al. 3′ UTR C2370A allele of the IL-23 receptor gene is associated with relapsing-remitting multiple sclerosis. Neurosci Lett. 2008;431:36–38.10.1016/j.neulet.2007.11.015
22. Nunez C, Dema B, Cenit M, et al. IL23R:a susceptibility locus for celiac disease and multiple sclerosis? Genes Immun. 2008;9:289–293.10.1038/gene.2008.16
23. Roos IM, Kockum I, Hillert J. The interleukin 23 receptor gene in multiple sclerosis:a case-control study. J Neuroimmunol. 2008;194:173–180.10.1016/j.jneuroim.2007.11.011
24. Begovich AB, Chang M, Caillier SJ, et al. The autoimmune disease–associated IL12B and IL23R polymorphisms in multiple sclerosis. Hum Immunol. 2007;68:934–937.10.1016/j.humimm.2007.09.005
25. Liu M, Hu X, Wang Y, et al. Association of IL-23 and its receptor gene single-nucleotide polymorphisms with multiple sclerosis in Chinese southern population. Int J Neurosci. 2014;124:904–907.10.3109/00207454.2014.894044
26. Nicolae DL, Gamazon E, Zhang W, et al. Trait-associated SNPs are more likely to be eQTLs:annotation to enhance discovery from GWAS. PLoS Genet. 2010;6:e1000888.10.1371/journal.pgen.1000888
27. Cookson W, Liang L, Abecasis G, et al. Mapping complex disease traits with global gene expression. Nat Rev Genet. 2009;10:184–194.10.1038/nrg2537
28. McDonald WI, Compston A, Edan G, et al. Recommended diagnostic criteria for multiple sclerosis:guidelines from the international panel on the diagnosis of multiple sclerosis. Ann Neurol. 2001;50:121–127.10.1002/(ISSN)1531-8249
29. Polman CH, Reingold SC, Banwell B, et al. Diagnostic criteria for multiple sclerosis:2010 revisions to the McDonald criteria. Ann Neurol. 2011;69:292–302.10.1002/ana.22366
30. Kurtzke JF. Rating neurologic impairment in multiple sclerosis:An Expanded Disability Status Scale (EDSS). Neurology. 1983;33:1444–1444.10.1212/WNL.33.11.1444
31. Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative CT method. Nat Protoc. 2008;3:1101–1108.10.1038/nprot.2008.73
32. Benjamini Y, Hochberg Y. Controlling the false discovery rate:a practical and powerful approach to multiple testing. J R Stat Soc Ser B (Methodological) 1995;57:289–300.
33. Yong Y, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15:97–98.10.1038/sj.cr.7290272
34. Patel DD, Kuchroo VK. Th17 cell pathway in human immunity:lessons from genetics and therapeutic interventions. Immunity. 2015;43:1040–1051.10.1016/j.immuni.2015.12.003
35. Lincoln MR, Montpetit A, Cader MZ, et al. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet. 2005;37:1108–1112.
36. Javan M-R, Seyfizadeh N, Aslani S, et al. Molecular analysis of interleukin-25 exons 1 and 2 and its serum levels in Iranian patients with multiple sclerosis. Am J Clin Exp Immunol. 2014;3:91.
37. Wang S, Zhai H, Su Y, et al. IL-17F but not IL-17A gene polymorphism confers risk to multiple sclerosis in a Chinese Han population. J Neurol Sci. 2014;342:133–136.10.1016/j.jns.2014.05.004
38. Hall M, McGlinn E, Coakley G, et al. Genetic polymorphism of IL-12 p40 gene in immune-mediated disease. Genes Immun. 2000;1:219–224.10.1038/sj.gene.6363661
39. Burton PR, Clayton DG, Cardon LR, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007;39:1329–1337.10.1038/ng.2007.17
40. van Boxel-Dezaire A, Hoff S, Van Oosten B, et al. Decreased interleukin-10 and increased interleukin-12p40 mRNA are associated with disease activity and characterize different disease stages in multiple sclerosis. Ann Neurol. 1999;45:695–703.10.1002/(ISSN)1531-8249
41. Huang D, Cancilla M, Morahan G. Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit. Genes Immun. 2000;1:515–520.10.1038/sj.gene.6363720
42. Morahan G, Huang D, Ymer SI, et al. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat Genet. 2001;27:218–221.10.1038/84872
43. Chen Y, Langrish CL, Mckenzie B, et al. Anti-IL-23 therapy inhibits multiple inflammatory pathways and ameliorates autoimmune encephalomyelitis. J Clin Invest. 2006;116:1317–1326.10.1172/JCI25308