Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis

Human Genetics

Volumn 122, Issue 2, 2007, Pages 201-206

  Capon, Francesca ^a   Di Meglio, Paola ^a   Szaub, Joanna ^a   Prescott, Natalie J ^a   Dunster, Christina ^a   Baumber, Laura ^a   Timms, Kirsten ^b   Gutin, Alexander ^b   Abkevic, Victor ^b   Burden, A David ^c   Lanchbury, Jerry ^b   Barker, Jonathan N ^a   Trembath, Richard C ^a,d   Nestle, Frank O ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b Myriad Genetic Laboratories   (United States)

^c WESTERN INFIRMARY   (United Kingdom)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; GLUTAMINE; INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 23; LIGAND; RECEPTOR SUBUNIT;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHRONIC INFLAMMATION; COHORT ANALYSIS; CONTROLLED STUDY; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; PSORIASIS; SAMPLE SIZE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; INTERLEUKIN-12 SUBUNIT P40; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS; RECEPTORS, INTERLEUKIN; SEQUENCE ANALYSIS, DNA;

EID: 34547774225     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0397-0     Document Type: Article

References (28)

1. Bottini N, Vang T, Cucca F, Mustelin T (2006) Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol 18:207-213
2. Bowcock AM, Cookson WO (2004) The genetics of psoriasis, psoriatic arthritis and atopic dermatitis. Hum Mol Genet 13(suppl 1):R43-R55
3. Capon F, Munro M, Barker J, Trembath R (2002) Searching for the major histocompatibility complex psoriasis susceptibility gene. J Invest Dermatol 118:745-751
4. Capon F, Helms C, Veal CD, Tillman D, Burden AD, Barker JN, Bowcock AM, Trembath RC (2004a) Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. J Med Genet 41:459-460
5. Capon F, Trembath RC, Barker JN (2004b) An update on the genetics of psoriasis. Dermatol Clin 22:339-347, vii
6. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB (2007) A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 80:273-290
7. Cookson WO, Ubhi B, Lawrence R, Abecasis GR, Walley AJ, Cox HE, Coleman R, Leaves NI, Trembath RC, Moffatt MF, Harper JI (2001) Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 27:372-3
8. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-121
9. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH (2006) A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314:1461-1463
10. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM (2003) A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 35:349-356
11. Huffmeier U, Traupe H, Burkhardt H, Schurmeier-Horst F, Lascorz J, Bohm B, Lohmann J, Stander M, Wendler J, Kelsch R, Baumann C, Kuster W, Wienker TF, Reis A (2005) Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. J Invest Dermatol 124:107-110
12. Kastelein RA, Hunter CA, Cua DJ (2007) Discovery and biology of IL-23 and IL-27: Related but functionally distinct regulators of inflammation. Annu Rev Immunol 25:221-242
13. Kikly K, Liu L, Na S, Sedgwick JD (2006) The IL-23/Th(17) axis: therapeutic targets for autoimmune inflammation. Curr Opin Immunol 18:670-675
14. Krueger GG, Langley RG, Leonardi C, Yeilding N, Guzzo C, Wang Y, Dooley LT, Lebwohl M (2007) A human interleukin-12/23 monoclonal antibody for the treatment of psoriasis. N Engl J Med 356:580-592
15. Lee YA, Ruschendorf F, Windemuth C, Schmitt-Egenolf M, Stadelmann A, Nurnberg G, Stander M, Wienker TF, Reis A, Traupe H (2000) Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet 67:1020-1024
16. Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 38:1055-1059
17. Nair RP, Henseler T, Jenisch S, Stuart P, Bichakjian CK, Lenk W, Westphal E, Guo SW, Christophers E, Voorhees JJ, Elder JT (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 6:1349-1356
18. Nickoloff BJ, Nestle FO (2004) Recent insights into the immunopathogenesis of psoriasis provide new therapeutic opportunities. J Clin Invest 113:1664-1675
19. Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J, Pflanz S, Zhang R, Singh KP, Vega F, To W, Wagner J, O'Farrell AM, McClanahan T, Zurawski S, Hannum C, Gorman D, Rennick DM, Kastelein RA, de Waal Malefyt R, Moore KW (2002) A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. J Immunol 168:5699-5708
20. Power C, Elliott J (2006) Cohort profile: 1958 British birth cohort (National Child Development Study). Int J Epidemiol 35:34-41
21. Smith CH, Barker JN (2006) Psoriasis and its management. BMJ 333:380-384
22. Steer S, Abkevich V, Gutin A, Cordell HJ, Gendall KL, Merriman ME, Rodger RA, Rowley KA, Chapman P, Gow P, Harrison AA, Highton J, Jones PB, O'Donnell J, Stamp L, Fitzgerald L, Iliev D, Kouzmine A, Tran T, Skolnick MH, Timms KM, Lanchbury JS, Merriman TR (2007) Genomic DNA pooling for whole-genome association scans in complex disease: Empirical demonstration of efficacy in rheumatoid arthritis. Genes Immun 8:57-68
23. Stephens M, Scheet P (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 76:449-462
24. Stuart P, Nair RP, Abecasis GR, Nistor I, Hiremagalore R, Chia NV, Qin ZS, Thompson RA, Jenisch S, Weichenthal M, Janiga J, Lim HW, Christophers E, Voorhees JJ, Elder JT (2006) Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: No evidence for association despite adequate power and evidence for linkage. J Med Genet 43:12-17
25. Trembath RC, Clough RL, Rosbotham JL, Jones AB, Camp RD, Frodsham A, Browne J, Barber R, Terwilliger J, Lathrop GM, Barker JN (1997) Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet 6:813-820
26. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423:506-511
27. Weedon MN, McCarthy MI, Hitman G, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, Frayling TM (2006) Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med 3:e374
28. Yang Q, Khoury MJ, Sun F, Flanders WD (1999) Case-only design to measure gene-gene interaction. Epidemiology 10:167-170