Mapping the future of common diseases: Lessons from psoriasis

Frontiers in Bioscience

Volumn 12, Issue 4, 2007, Pages 1563-1573

  Giardina, Emiliano ^a   Sinibaldi, Cecilia ^a   Novelli, Giuseppe ^a,b,c,d  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c FATEBENEFRATELLI HOSPITAL   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Autoimmune diseases; Complex diseases; HLA; Psoriasis; Psoriatic arthritis; Review; Susceptibility to complex disease

Indexed keywords

EID: 34249812393     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/2169     Document Type: Article

References (89)

1. Moll J.M & V. Wright: The Psoriatic arthritis. Semin Arthritis Rheum 3, 55-78 (1973)
2. Fearon U & D.J. Veale: Pathogenesis of psoriatic arthritis. Clin Exp Dermatol 26, 333-337(2001)
3. Patel S, D.J. Veale, O. FitzGerald & N.J. McHugh: Psoriatic arthritis-emerging concepts. Rheumatology 40, 243-246 (2001)
4. Natl. Psoriasis Found. Bull. Psoriatic arthritis more common than suspected. 33, 6 (2002)
5. Gladman D.D, V.T. Farewell, P. Rahman, C.T. Schentag, F. Pellett, C.M. Ng & J.A. Wade: HLA-DRBI*04 alleles in psoriatic arthritis: comparison with rheumatoid arthritis and healthy controls. Hum Immunol 62, 1239-1244 (2001)
6. Winchester R: Psoriatic arthritis. Dermatol Clin 13, 779-792 (1995)
7. King R.A, J.I. Rotter & A.G. Motulsky: The genetic basis of common disease. Oxford University Press: New York (2002)
8. Henseler T. & E. Christophers: Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J Am Acad Dermatol 13, 450-456 (1985)
9. Elder J.T, T. Henseler & E. Christophers, J.J. Voorhees & R.P. Nair: Of genes and antigens: the inheritance of psoriasis. J Invest Dermatol 103, 150S-153S (1994)
10. Lomholt G: Psoriasis: Prevalence, Spontaneous Course, and Genetics. A Census Study on the Prevalence of Skin Diseases in the Faroe Island. GEC Gad, Copenaghen (1963)
11. Hellgren I: Psoriasis: The prevalence in Sex, Age, and Occupational Groups in Total Populations in Sweden. Morphology, Inheritance, and Association with Other Skin and Rheumatic Diseases. Almqvist & Wiksell, Stockolm (1967)
12. Peters B.P, F.G. Weissman & M.A. Gill: Pathophysiology and treatment of psoriasis. Am J Health Syst Pharm 57, 645-659 (2000)
13. Breuer-McHam J.N, G.D. Marshall, D.E. Lewis & M. Duvic: Distinct serum cytokines in AIDS-related skin diseases. Viral Immunol 11, 215-220 (1998)
14. Gottlieb A.B: Psoriasis. Dis Manag Clin Outcomes 1, 195-202 (1998)
15. Gottlieb A.B: Psoriasis: emerging therapeutic strategies. Nat Rev Genet 4, 19-34 (2005)
16. Rasmussen J.E: Psoriasis in children. Dermatol Clin 4, 99-106 (1986)
17. Farber E.M. & M.L. Nail: The natural history of psoriasis in 5,600 patients. Dermatologica 148, 1-18 (1974)
18. Leung D.Y, J.B. Travers, R. Giorno, D.A. Norris, R. Skinner, J. Aelion, L.V. Kazemi, M.H. Kim, A.E. Trumble, M. Kotb: Evidence for a streptococcal superantigen-driven process in acute guttate psoriasis. J Clin Invest 96, 2106-2012 (1995)
19. Veale D.J, C. Ritchlin & O. FitzGerald: Immunopathology of psoriasis and psoriatic arthritis. Ann Rheum Dis 64, 26-29 (2005)
20. McKenzie R.C. & E. Sabin: Aberrant signalling and transcription factors activation as an explanation for the detective growth control and differentiation of keratinocytes in psoriasis: a hypothesis. Exp Dermatol 12, 337-345 (2003)
21. Abele D.C, R.L. Dobson & J.B. Graham: Heredity and psoriasis: study of a large family. Arch Dermatol 88, 38-47 (1963)
22. Swanbeck G, A. Inerot, T. Martinsson & J. Wahlstrom: A population genetic study of psoriasis. Br J Dermatol 131, 32-39 (1994)
23. Swanbeck G, A. Inerot, T. Martinsson, C. Enerback, F. Enlund, L. Samuelsson, M. Yhr & J. Wahlstrom: Genetic counselling in psoriasis: empirical data on psoriasis among first-degree relatives of 3095 psoriatic probands. Br J Dermatol 137, 939-942 (1997)
24. Burch P.R. & N.R. Rowell: Psoriasis: aetiological aspects. Acta Derm Venereol 45, 366-380 (1965)
25. Giardina E, C. Sinibaldi, G. Novelli: The psoriasis genetics as a model of complex disease. Curr Drug Targets Inflamm Allergy 3, 129-136 (2004)
26. The International Psoriasis Genetics Consortium: The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs. Am J Hum Genet 73, 430-437 (2003)
27. Trembath R.C, R.L. Clough, J.L. Rosbotham, A.B. Jones, R.D. Camp, A. Frodsham, J. Browne, R. Barber, J. Terwilliger, G.M. Lathrop & J.N. Barker: 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 (1997)
28. Bowcock A.M. & J.N. Barker: Genetics of psoriasis: the potential impact on new therapies. J Am Acad Dermatol 49, 51-56 (2003)
29. Bowcock A.M. & W.O. Cookson: The genetics of psoriasis, psoriatic arthritis and atopic dermatitis. Hum Mol Genet 13, 43-55 (2004)
30. Jenisch S, T. Henseler, R.P. Nair, S.W. Guo, E. Westphal, P. Stuart, M. Kronke, J.J. Voorhees, E. Christophers & J.T. Elder: Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region. Am J Hum Genet 63, 191-199 (1998)
31. Balendran N, R.L. Clough, J.R. Arguello, R. Barber, C. Veal, A.B. Jones, J.L. Rosbotham, A.M. Little, A. Madrigal, J.N. Barker, S.H. Powis & R.C. Tremabth: Characterization of the major susceptibility region for psoriasis at chromosome 6p21.3. J Invest Dermatol 113, 322-328 (1999)
32. Oka A, G. Tamia, M. Tomizawa, M. Ota, Y. Katsuyama, S. Makino, T. Shiina, M. Yoshitome, M. Lizuka, Y. Sasao, K. Iwashita, Y. Kawakubo, J. Sigai, A. Ozawa, M. Ohkido, M. Rimura, S. Bahram & H. Inoko: Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. Hum Mol Genet 8, 2165-2170 (1999)
33. Nair R.P, P. Stuart, T. Henseler, S. Jenisch, N.V.C. Chia, E. Westphal, N.J. Schork, J. Kim, H.W. Lim, E. Christophers, J.J. Voorhees & J.T. Elder: Localization of psoriasis-susceptibility locus PSORS1 to a 60-kb interval telomeric to HLA-C. Am J Hum Genet 66, 1833-1844 (2000)
34. Veal C.D, F. Capon, M.H. Allen, E.K. Heath, J.C. Evans, A. Jones, S. Patel, D. Burden, D. Tillman, J.N. Barker & R.C. Trembath: Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasissusceptibility locus. Am J Hum Genet 71, 554-564 (2002)
35. Orru S, E. Giuressi, C. Carcassi, M. Casula & L. Contu: Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN). Am J Hum Genet 76, 164-171 (2005)
36. Capon F, M.H. Allen, M. Ameen, A.D. Burden, D. Tillman, J.N. Barker & R.C. Trembath: A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Hum Mol Genet 13, 2361-2368 (2004)
37. Tomfohrde J, A. Silverman, R. Barnes, M.A. Fernandez-Vina, M. Young, D. Lory, L. Morris, K.D. Wuepper, P. Stastny, A. Menter & A.M. Bowcock: Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 264, 1141-1145 (1994)
38. Matthews D, L. Fry, A. Powles, J. Weber, M. McCarthy, E. Fisher, K. Davies & R. Williamson: Evidence that a locus for familial psoriasis maps to chromosome 4q. Nat Genet 14, 231-233 (1996)
39. Nair R.P, T. Henseler, S. Jenisch, P. Stuart, C.K. Bichakjian, W. Lenk, E. Westphal, S.W. Guo, E. Christophers, J.J. Voorhees & J.T. Elder: 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 (1997)
40. Enlund F, L. Samuelsson, C. Enerback, A. Inerot, J. Wahlstrom, M. Yhr, T. Torinsson, T. Martinsson & G. Swanbeck: Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q. Hum Hered 49, 2-8 (1999)
41. Speckman R.A, J.A. Wright Daw, C. Helms, S. Duan, L. Cao, P. Taillon-Miller, P. Kwork, A. Menter & A.M. Bowcock: Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. Hum Genet 112, 34-41 (2003)
42. Helms C., L. Cao, J.G. Krueger, E.M. Wijsman, F. Chamian, D. Gordon, M. Heffernan, J.A. Wright Daw, J. Robarge, J. Ott, P.Y. Kwork, A. Menter & A.M. Bowcock: A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 35, 349-356 (2003)
43. Capon F, C. Helms, C.D. Veal, D. Tillman, A.D. Burden, J.N. Barker, A.M. Bowcock & R.C. Trembath: Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. J Med Genet 41, 459-460 (2004)
44. Stuart P, R.P. Nair, G.R. Abecasis, I. Nistor, R. Hiremagalore, N.V. Chia, Z.S. Qin, R.A. Thompson, S. Jenisch, M. Weichenthal, J. Janiga, H.W. Lim, E. Christophers, J.J. Voorhees & J.T. Elder: Analysis of RUNX1 Binding Site and RAPTOR Polymorphisms in Psoriasis: No Evidence for Association Despite Adequate Power and Evidence for Linkage. J Med Genet (on-line pubblication)
45. Hwu W.L, C.F. Yang, C.S. Fann, C.L. Chen, T.F. Tsai, Y.H. Chien, S.C. Chiang, C.H. Chen, S.I. Hung, J.Y. Wu & Y.T. Chen: Mapping of psoriasis to 17q terminus. J Med Genet 42, 152-158 (2005)
46. Samuelsson L, F. Enlund, A. Torinsson, M. Yhr, A. Inerot, C. Enerback, J. Wahlstrom, G. Swanbeck & T. Martinsson: A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach. Hum Genet 105, 523-529 (1999)
47. Bhalerao J. & A. Bowcock: The genetics of psoriasis a complex disorder of the skin and immune system. Hum Mol Genet 7, 1537-1545 (1998)
48. Sagoo G.S, M.J. Cork, R. Patel & R. Tazi-Ahnini: Genome-wide studies of psoriasis susceptibility loci: a review. J Dermatol Sci 35, 171-179 (2004)
49. Capon F, G. Novelli, S. Semprini, M. Clementi, M. Nudo, P. Voltaggio, A. Botta, G. Fabrizi & B. Dallapiccola Searching for psoriasis susceptibility genes in Italy genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol 112, 32-35 (1999)
50. Capon F, S. Semprini, B. Dalla piccola & G. Novelli Evidence for interaction between psoriasis susceptibility loci on chromosomes 6p21 and 1q21. Am J Hum Genet 65, 1798-1800 (1999)
51. Semprini S, F. Capon, A. Tacconelli, E. Giardina, A. Orecchia, R. Mingarelli, T. Gobello, G. Zambruno, A. Botta, G. Fabrizi & G. Novelli: Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees. Hum Genet 111, 310-313 (2002)
52. Capon F, S. Semprini, S. Chimenti, G. Fabrizi, G. Zambruno, S. Murgia, C. Carcassi, M. Fazio, R. Mingarelli, B. Dallapiccola & G. Novelli: Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol 116, 728-730 (2001)
53. Giardina E, F. Capon, M.C. De Rosa, R. Mango, G. Zambruno, A. Orecchia, S. Chimenti, B. Giardina, & G. Novelli: Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus. Ann Hum Genet 68, 639-645 (2004)
54. Cookson W.O, B. Ubhi, R. Lawrence, G.R. Abecasis, A.J. Walley, H.E. Cox, R. Coleman, N.I. Leaves, R.C. Trembath, M.F. Moffatt & J.I. Harper: Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet. 27, 372-373 (2001)
55. Giardina E, C. Sinibaldi, L. Chini, V. Moschese, G. Marulli, A. Provini, P. Rossi, M. Paradisi, S. Chimenti,E. Brunetti, G. Girolomoni & G. Novelli: Co-localization on human chromosome 1 of susceptibility loci for atopic dermatitis (ATOD2) and psoriasis (PSORS4): new evidence for loricrin involvement, (submitted)
56. Aune T.M, J.S. Parker, K. Maas, Z. Liu, N.J. & Olsen, J.H. Moore: Co-localization of differentially expressed genes and shared susceptibility loci in human autoimmunity. Genet Epidemiol 27, 162-172 (2004)
57. Enlund F, L. Samuelsson, C. Enerback, A. Inerot, J. Wahlstrom, M. Yhr, A. Torinsson, J. Riley, G. Swanbeck & T. Martinsson: Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 1, 783-790 (1999)
58. Hewett D, L. Samuelsson, J. Polding, F. Enlund, D. Smart, K. Cantone, C.G. See, S. Chadha, A. Inerot, C. Enerback, D. Montgomery, C. Christodolou, P. Robinson, P. Matthews, M. Plumpton, J. Wahlstrom, G. Swanbeck, T. Martinsson, A. Roses, J. Riley & I. Purvis: Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. Genomics 79, 305-314 (2002)
59. Yamada R. & K. Ymamoto: Recent findings on genes associated with inflammatory disease. Mutat Res 573, 136-151 (2005)
60. Tokuhiro S, R. Yamada, X. Chang, A. Suzuki, Y. Kochi, T. Sawada, M. Suzuki, M. Nagasaki, M. Ohtsuki, M. Ono, H. Furukawa, M. Nagashima, S. Yoshino, A. Mabuchi, A. Sekine, S. Saito, A. Takahashi, T. Tsunoda, Y. Nakamura & K. Yamamoto: An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 35, 341-348 (2003)
61. Yamada R, S. Tokuhiro, X. Chang, K. Yamamoto: SLC22A4 and RUNX1: identification of RA susceptible genes. J Mol Med 82, 558-564 (2004)
62. Lee Y.A, F. Ruschendorf, C. Windemuth, M. Schmitt-Egenolf, A. Stadelmann, G. Nurnberg, M. Stander, T.F. Wienker, A. Reis & H. Traupe: Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet 67, 1020-1024 (2000)
63. Hensen P, C. Windemuth, U. Huffmeier, F. Ruschendorf, A. Stadelmann, V. Hoppe, D. Fenneker, M. Stander, M. Schmitt-Egenolf, T.F. Wienker, H. Traupe & A. Reis: Association scan of the novel psoriasis susceptibility region on chromosome 19 evidence for both susceptible and protective loci. Exp Dermatol 12, 490-496 (2003)
64. Veal C.D, R.L. Clough, R.C. Barber, S. Mason, D. Tillman, B. Ferry, A.B. Jones, M. Ameen, N. Balendran, S.H. Powis, A.D. Burden, J.N. Barker & R.C. Trembath: Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci. J Med Genet 38, 7-13 (2001)
65. Begovich A.B, V.E. Carlton, L.A. Honigberg, S.J. Schrodi, A.P. Chokkalingam, H.C. Alexander, K.G. Ardlie, Q. Huang, A.M. Smith, J.M. Spoerke, M.T. Conn, M. Chang, S.Y. Chang, R.K. Saiki, J.J. Catanese, D.U. Leong, V.E. Garcia, L.B. McAllister, D.A. Jeffery, A.T. Lee, F. Batliwalla, E. Remmers, L.A. Criswell, M.F. Seldin, D.L. Kastner, C.I. Amos, J.J. Sninsky & P.K. Gregersen: A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75, 330-337 (2004)
66. Bottini N, L. Musumeci, A. Alonso, S. Rahmouni, K. Nika, M. Rostamkhani, J. MacMurray, G.F. Meloni, P. Lucarelli, M. Pellecchia, G.S. Eisenbarth, D. Comings & T. Mustelin: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36, 337-338 (2004)
67. Onengut-Gumuscu S, K.G. Ewens, R.S. Spielman & P. Concannon: A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 5, 678-680 (2004)
68. Kyogoku C, C.D. Langefeld, W.A. Ortmann, A. Lee, S. Selby, V.E. Carlton, M. Chang, P. Ramos, E.C. Baechler, F.M. Batliwalla, J. Novitzke, A.H. Williams, C. Gillett, P. Rodine, R.R. Graham, K.G. Ardlie, P.M. Gaffney, K.L. Moser, M. Petri, A.B. Begovich, P.K. Gregersen & T.W. Behrens: Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75, 504-507 (2004)
69. Velaga M.R, V. Wilson, C.E. Jennings, C.J. Owen, S. Herington, P.T. Donaldson, S.G. Ball., R.A. James, R. Quinton, P. Perros & S.H. Pearce: The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89, 5862-5865 (2004)
70. Karason A, J.E. Gudjonsson, R.Upmanyu, A.A. Antonsdottir, V.B. Hauksson, E.H Runasdottir, H.H. Jonsson, D.F. Gudbjartsson, M.L. Frigge, A.Kong, K.Stefansson, H.Valdimarsson, J.R. Gulcher: A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting. Am J Hum Genet 72, 125-131 (2003)
71. Ogura Y, D.K. Bonen, N. Inohara, D.L. Nicolae, F.F. Chen, R. Ramos, H. Britton, T. Moran, R. Karaliuskas, R.H. Duerr, J.P. Achkar, S.R. Brant, T.M. Bayless, B.S. Kirschner, S.B. Hanauer, G. Nunez & J.H. Cho: A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001)
72. Hugot J.P, M. Chamaillard, H. Zouali, S. Lesage, J.P. Cézard, J. Belaiche, S. Almer, C. Tysk, C.A. O'Morain, M. Gassull, V.Binder, Y. Finkel, A. Cortot, R. Modigliani, P.Laurent-Puig, C. Gower-Rousseau, J. Macry, J.F. Colombel, M. Sahbatou, G. Thomas: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001)
73. Rahman P, S.Bartlett, F.Siannis, F.J. Pellett, V.T. Farewell, L.Peddle, C.T. Schentag, C.A. Alderdice, S.Hamilton, M.Khraishi, D. Tobin, D.Hefferton & D.D. Gladman: CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet 73, 677-681 (2003)
74. Nair R.P, P.Stuart, Y.Ogura, N.Inohara, N.V. Chia, L.Young, T.Henseler, S. Jenisch, E.Christophers, J.J. Voorhees, G. Nunez & J.T. Elder: Lack of association between NOD2 3020InsC frameshift mutation and psoriasis. J Invest Dermatol 117, 1671-1672 (2001)
75. Borgiani P, L. Vallo, M.R. D'Apice, E. Giardina, S. Pucci, F. Capon, S. Nisticò, S. Chimenti, F. Pallone & G. Novelli: Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol 12, 540-542 (2002)
76. Giardina E, G. Novelli, A. Costanzo, S. Nistico, C. Bulli, C.Sinibaldi, M.L. Sorgi, S. Chimenti, F. Pallone, E. Taccari & P. Borgiani: Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population. J Invest Dermatol 122, 1106-1107 (2004)
77. Chistiakov D.A. & R.I.Turakulov: CTLA-4 and its role in autoimmune thyroid disease J Mol Endocrinol 31, 21-36 (2003)
78. Yanagawa T, Y. Hidaka, V. Guimaraes, M. Soliman & L.J. DeGroot: CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clin Endocrinol Metab 80, 41-45 (1995)
79. Marron M.P, L.J. Raffel, H.J. Garchon, C.O. Jacob, M. Serrano-Rios, M.T. Martinez Larrad, W.P. Teng, Y. Park, Z.X. Zhang, D.R. Goldstein, Y.W. Tao, G. Beaurain, J.F. Bach, H.S. Huang, D.F. Luo, A. Zeidler, J.I. Rotter, M.C. Yang, T. Modilevsky, N.K. Maclaren & J.X. She: Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum Mol Genet 6, 1275-1282 (1997)
80. Djilali-Saiah I, J. Schmitz, E. Harfouch-Hammoud, J.F. Mougenot, J.F. Bach & S. Caillat-Zucman: CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.Gut 43, 187-189 (1998)
81. Seidl C, H. Donner, B. Fischer, K.H. Usadel, E. Seifried, J.P. Kaltwasser & K.Badenhoop: CTLA4 codon 17 dimorphism in patients with rheumatoid arthritis. Tissue Antigens 51, 62-66 (1998)
82. Ogura Y, D.K. Bonen, N. Inohara, D.L. Nicolae, F.F. Chen, R. Ramos, H. Britton, T. Moran, R. Karaliuskas, R.H. Duerr, J.P. Achkar, S.R. Brant, T.M. Bayless, B.S. Kirschner, S.B. Hanauer, G. Nunez & J.H. Cho: A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001)
83. Rioux J.D, M.J. Daly, M.S. Silverberg, K. Lindblad, H. Steinhart, Z. Cohen, T. Delmonte, K. Kocher, K. Miller, S. Guschwan, E.J. Kulbokas, S. O'Leary, E. Winchester, K. Dewar, T. Green, V. Stone, C. Chow, A. Cohen, D. Langelier, G. Lapointe, D. Gaudet, J. Faith, N. Branco, S.B. Bull, R.S. McLeod, A.M. Griffiths, A. Bitton, G.R. Greenberg, E.S. Lander, K.A. Siminovitch & T.J. Hudson: Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 29, 223-228 (2001)
84. Mansur A.H, D.T. Bishop, A.F. Markham, J. Britton, J.F. Morrison: Association study of asthma and atopy traits and chromosome 5q cytokine cluster markers. Clin Exp Allergy 28, 141-150 (1998)
85. Kauppi P, K. Lindblad-Toh, P. Sevon, H.T. Toivonen, J.D. Rioux, A. Villapakkam, L.A. Laitinen, T.J. Hudson, J. Kere & T. Laitinen: A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma. Genomics 77, 35-42 (2001)
86. Tsao B.P: An update on genetic studies of systemic lupus erythematosus. Curr Rheumatol Rep 4, 359-367 (2002)
87. Prokunina L. & M. Alarcon-Riquelme: The genetic basis of systemic lupus erythematosus: knowledge of today and thoughts for tomorrow. Hum Mol Genet 13, 143-148 (2004)
88. Nielsen C, D. Hansen, S. Husby, B.B. Jacobsen & S.T. Lillevang: Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 492-497 (2003)
89. Tokuhiro S, R. Yamada, X. Chang, A. Suzuki, Y. Kochi, T. Sawada, M. Suzuki, M. Nagasaki, M. Ohtsuki, M. Ono, H. Furukawa, M. Nagashima, S. Yoshino, A. Mabuchi, A. Sekine, S. Saito, A. Takahashi, T. Tsunoda, Y. Nakamura & K. Yamamoto: An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 35, 341-348 (2003)