Influence of TYK2 in systemic sclerosis susceptibility: A new locus in the IL-12 pathway

Annals of the Rheumatic Diseases

Volumn 75, Issue 8, 2016, Pages 1521-1526

  López Isac, Elena ^a   Campillo Davo, Diana ^a   Bossini Castillo, Lara ^a   Guerra, Sandra G ^b   Assassi, Shervin ^c   Simeón, Carmen Pilar ^d   Carreira, Patricia ^e   Ortego Centeno, Norberto ^f   García De La Peña, Paloma ^g   Beretta, Lorenzo ^h   Santaniello, Alessandro ^h   Bellocchi, Chiara ^h   Lunardi, Claudio ⁱ   Moroncini, Gianluca ^j   Gabrielli, Armando ^j   Riemekasten, Gabriela ^k,l   Witte, Torsten ^m   Hunzelmann, Nicolas ⁿ   Kreuter, Alexander ^o   Distler, Jörg Hw ^p   Voskuyl, Alexandre E ^q   De Vries Bouwstra, Jeska ^r   Herrick, Ariane ^s   Worthington, Jane ^s   Denton, Christopher P ^b   Fonseca, Carmen ^b   Radstake, Timothy Rdj ^t   Mayes, Maureen D ^c   Martín, Javier ^a   more..

^a INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY OF TEXAS   (United States)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^g Hospital Madrid Norte Sanchinarro   (Spain)

^h FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

ⁱ UNIVERSITY OF VERONA   (Italy)

^j UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^k CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^l DEUTSCHES RHEUMA FORSCHUNGSZENTRUM   (Germany)

^m HANNOVER MEDICAL SCHOOL   (Germany)

ⁿ UNIVERSITY OF COLOGNE   (Germany)

^o St Elisabeth Hospital   (Germany)

^p UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^q VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^r LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^s UNIVERSITY OF MANCHESTER   (United Kingdom)

^t UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

Cytokines; Gene Polymorphism; Systemic Sclerosis; Treatment

Indexed keywords

ALANINE; INTERLEUKIN 12; ISOLEUCINE; PHENYLALANINE; PROLINE; PROTEIN KINASE TYK2; SERINE; VALINE; TYK2 PROTEIN, HUMAN;

ANCESTRY GROUP; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EUROPEAN; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; GERMANY; HUMAN; HUMAN GENOME; IMMUNOPATHOGENESIS; ITALY; MAJOR CLINICAL STUDY; META ANALYSIS (TOPIC); MISSENSE MUTATION; NETHERLANDS; POPULATION BASED CASE CONTROL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; SYSTEMIC SCLEROSIS; TYK2 GENE; UNITED KINGDOM; UNITED STATES; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; IMMUNOLOGY; META ANALYSIS; PHYSIOLOGY; SIGNAL TRANSDUCTION;

CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERLEUKIN-12; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; SCLERODERMA, SYSTEMIC; SIGNAL TRANSDUCTION; TYK2 KINASE;

EID: 84940943110     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2015-208154     Document Type: Article

References (40)

1. Gabrielli A, Avvedimento EV, Krieg T. Scleroderma. N Engl J Med 2009;360:1989-2003.
2. Radstake TR, Gorlova O, Rueda B, et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 2010;42:426-9.
3. Mayes MD, Bossini-Castillo L, Gorlova O, et al. Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis. Am J Hum Genet 2014;94:47-61.
4. Martin JE, Bossini-Castillo L, Martin J. Unraveling the genetic component of systemic sclerosis. Hum Genet 2012;131:1023-37.
5. Assassi S, Radstake TR, Mayes MD, et al. Genetics of scleroderma: implications for personalized medicine? BMC Med 2013;11:9.
6. Diogo D, Bastarache L, Liao KP, et al. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-Autoimmune complex traits. PLoS ONE 2015;10:e0122271.
7. Parkes M, Cortes A, van Heel DA, et al. Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat Rev Genet 2013;14:661-73.
8. Lopez-Isac E, Bossini-Castillo L, Guerra SG, et al. Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus. Arthritis Rheumatol 2014;66:3521-3.
9. Bossini-Castillo L, Martin JE, Broen J, et al. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations. Hum Mol Genet 2012;21:926-33.
10. Anon MC. Preliminary criteria for the classification of systemic sclerosis (scleroderma). Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Arthritis Rheum 1980;23:581-90.
11. LeRoy EC, Medsger TA, Jr. Criteria for the classification of early systemic sclerosis. J Rheumatol 2001;28:1573-6.
12. LeRoy EC, Black C, Fleischmajer R, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-5.
13. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009;5:e1000529.
14. Abecasis GR, Altshuler D, Auton A, et al. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-73.
15. Trynka G, Hunt KA, Bockett NA, et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 2011;43:1193-201.
16. Eyre S, Bowes J, Diogo D, et al. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet 2012;44:1336-40.
17. Cooper JD, Simmonds MJ, Walker NM, et al. Seven newly identified loci for autoimmune thyroid disease. Hum Mol Genet 2012;21:5202-8.
18. Liu JZ, Almarri MA, Gaffney DJ, et al. Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. Nat Genet 2012;44:1137-41.
19. Tsoi LC, Spain SL, Knight J, et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet 2012;44:1341-8.
20. Hinks A, Cobb J, Marion MC, et al. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet 2013;45:664-9.
21. Liu JZ, Hov JR, Folseraas T, et al. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet 2013;45:670-5.
22. Cortes A, Hadler J, Pointon JP, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet 2013;45:730-8.
23. Saruhan-Direskeneli G, Hughes T, Aksu K, et al. Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet 2013;93:298-305.
24. Purcell S, Neale B, Todd-Brown K, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
25. Pruim RJ, Welch RP, Sanna S, et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 2010;26:2336-7.
26. Skol AD, Scott LJ, Abecasis GR, et al. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006;38:209-13.
27. Cunninghame Graham DS, Morris DL, Bhangale TR, et al. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. PLoS Genet 2011;7:e1002341.
28. Hellquist A, Jarvinen TM, Koskenmies S, et al. Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol 2009;36:1631-8.
29. Sigurdsson S, Nordmark G, Goring HH, et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005;76:528-37.
30. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
31. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
32. Couturier N, Bucciarelli F, Nurtdinov RN, et al. Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility. Brain 2011;134:693-703.
33. Li Z, Gakovic M, Ragimbeau J, et al. Two rare disease-Associated Tyk2 variants are catalytically impaired but signaling competent. J Immunol 2013;190:2335-44.
34. Vignali DA, Kuchroo VK. IL-12 family cytokines: immunological playmakers. Nat Immunol 2012;13:722-8.
35. Sato S, Hanakawa H, Hasegawa M, et al. Levels of interleukin 12, a cytokine of type 1 helper T cells, are elevated in sera from patients with systemic sclerosis. J Rheumatol 2000;27:2838-42.
36. Leonardi CL, Kimball AB, Papp KA, et al. Efficacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 76-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 1). Lancet 2008;371:1665-74.
37. Papp KA, Langley RG, Lebwohl M, et al. Efficacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 52-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 2). Lancet 2008;371:1675-84.
38. Griffiths CE, Strober BE, van de Kerkhof P, et al. Comparison of ustekinumab and etanercept for moderate-To-severe psoriasis. N Engl J Med 2010;362:118-28.
39. Garber K. Pfizers first-in-class JAK inhibitor pricey for rheumatoid arthritis market. Nat Biotechnol 2013;31:3-4.
40. Liang Y, Zhu Y, Xia Y, et al. Therapeutic potential of tyrosine kinase 2 in autoimmunity. Expert Opin Ther Targets 2014;18:571-80.