Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes

American Journal of Human Genetics

Volumn 95, Issue 2, 2014, Pages 162-172

  Okada, Yukinori ^a,b,c,d   Han, Buhm ^c,d   Tsoi, Lam C ^e   Stuart, Philip E ^f   Ellinghaus, Eva ^g   Tejasvi, Trilokraj ^f   Chandran, Vinod ^h,i   Pellett, Fawnda ⁱ   Pollock, Remy ⁱ   Bowcock, Anne M ^j   Krueger, Gerald G ^k   Weichenthal, Michael ^g   Voorhees, John J ^f   Rahman, Proton ^l   Gregersen, Peter K ^m   Franke, Andre ^g   Nair, Rajan P ^f   Abecasis, Gonçalo R ^e   Gladman, Dafna D ^h,i   Elder, James T ^f,n   De Bakker, Paul I W ^o   Raychaudhuri, Soumya ^c,d,p   more..

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b Institute of Physical and Chemical Research   (Japan)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF KIEL   (Germany)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^k UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^l MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^m Northwell Health   (United States)

ⁿ VETERANS AFFAIRS MEDICAL CENTER   (United States)

^o UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^p UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTHRITIS, PSORIATIC; BASE SEQUENCE; CHROMOSOME MAPPING; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HISTOCOMPATIBILITY ANTIGENS CLASS II; HLA-B ANTIGENS; HLA-C ANTIGENS; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS;

EID: 84905925233     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.07.002     Document Type: Article

References (40)

1. F.O. Nestle, D.H. Kaplan, and J. Barker Psoriasis N. Engl. J. Med. 361 2009 496 509
2. E. Christophers Psoriasis - epidemiology and clinical spectrum Clin. Exp. Dermatol. 26 2001 314 320
3. O. Fitzgerald, and R. Winchester Psoriatic arthritis: from pathogenesis to therapy Arthritis Res. Ther. 11 2009 214
4. C.D. Veal, F. Capon, M.H. Allen, E.K. Heath, J.C. Evans, A. Jones, S. Patel, D. Burden, D. Tillman, J.N. Barker, and R.C. Trembath Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus Am. J. Hum. Genet. 71 2002 554 564
5. C. Helms, N.L. Saccone, L. Cao, J.A. Daw, K. Cao, T.M. Hsu, P. Taillon-Miller, S. Duan, D. Gordon, and B. Pierce et al. Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR Hum. Genet. 118 2005 466 476
6. R.P. Nair, P.E. Stuart, I. Nistor, R. Hiremagalore, N.V. Chia, S. Jenisch, M. Weichenthal, G.R. Abecasis, H.W. Lim, and E. Christophers et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene Am. J. Hum. Genet. 78 2006 827 851
7. R.P. Nair, K.C. Duffin, C. Helms, J. Ding, P.E. Stuart, D. Goldgar, J.E. Gudjonsson, Y. Li, T. Tejasvi, B.J. Feng Collaborative Association Study of Psoriasis Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways Nat. Genet. 41 2009 199 204
8. A. Strange, F. Capon, C.C. Spencer, J. Knight, M.E. Weale, M.H. Allen, A. Barton, G. Band, C. Bellenguez, J.G. Bergboer Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 Nat. Genet. 42 2010 985 990
9. E. Ellinghaus, D. Ellinghaus, P.E. Stuart, R.P. Nair, S. Debrus, J.V. Raelson, M. Belouchi, H. Fournier, C. Reinhard, and J. Ding et al. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2 Nat. Genet. 42 2010 991 995
10. U. Hüffmeier, S. Uebe, A.B. Ekici, J. Bowes, E. Giardina, E. Korendowych, K. Juneblad, M. Apel, R. McManus, and P. Ho et al. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis Nat. Genet. 42 2010 996 999
11. P.E. Stuart, R.P. Nair, E. Ellinghaus, J. Ding, T. Tejasvi, J.E. Gudjonsson, Y. Li, S. Weidinger, B. Eberlein, and C. Gieger et al. Genome-wide association analysis identifies three psoriasis susceptibility loci Nat. Genet. 42 2010 1000 1004
12. L.C. Tsoi, S.L. Spain, J. Knight, E. Ellinghaus, P.E. Stuart, F. Capon, J. Ding, Y. Li, T. Tejasvi, J.E. Gudjonsson Collaborative Association Study of Psoriasis (CASP) Genetic Analysis of Psoriasis Consortium Psoriasis Association Genetics Extension Wellcome Trust Case Control Consortium 2 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity Nat. Genet. 44 2012 1341 1348
13. L. Eder, V. Chandran, F. Pellet, S. Shanmugarajah, C.F. Rosen, S.B. Bull, and D.D. Gladman Human leucocyte antigen risk alleles for psoriatic arthritis among patients with psoriasis Ann. Rheum. Dis. 71 2012 50 55
14. L. Eder, V. Chandran, F. Pellett, S. Shanmugarajah, C.F. Rosen, S.B. Bull, and D.D. Gladman Differential human leucocyte allele association between psoriasis and psoriatic arthritis: a family-based association study Ann. Rheum. Dis. 71 2012 1361 1365
15. R. Winchester, G. Minevich, V. Steshenko, B. Kirby, D. Kane, D.A. Greenberg, and O. FitzGerald HLA associations reveal genetic heterogeneity in psoriatic arthritis and in the psoriasis phenotype Arthritis Rheum. 64 2012 1134 1144
16. V. Chandran, S.B. Bull, F.J. Pellett, R. Ayearst, P. Rahman, and D.D. Gladman Human leukocyte antigen alleles and susceptibility to psoriatic arthritis Hum. Immunol. 74 2013 1333 1338
17. B.J. Feng, L.D. Sun, R. Soltani-Arabshahi, A.M. Bowcock, R.P. Nair, P. Stuart, J.T. Elder, S.J. Schrodi, A.B. Begovich, and G.R. Abecasis et al. Multiple Loci within the major histocompatibility complex confer risk of psoriasis PLoS Genet. 5 2009 e1000606
18. J. Knight, S.L. Spain, F. Capon, A. Hayday, F.O. Nestle, A. Clop, J.N. Barker, M.E. Weale, R.C. Trembath Wellcome Trust Case Control Consortium Genetic Analysis of Psoriasis Consortium I-chip for Psoriasis Consortium Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis Hum. Mol. Genet. 21 2012 5185 5192
19. R. Pollock, V. Chandran, J. Barrett, L. Eder, F. Pellett, C. Yao, M. Lino, S. Shanmugarajah, V.T. Farewell, and D.D. Gladman Differential major histocompatibility complex class I chain-related A allele associations with skin and joint manifestations of psoriatic disease Tissue Antigens 77 2011 554 561
20. R.A. Pollock, V. Chandran, F.J. Pellett, A. Thavaneswaran, L. Eder, J. Barrett, P. Rahman, V. Farewell, and D.D. Gladman The functional MICA-129 polymorphism is associated with skin but not joint manifestations of psoriatic disease independently of HLA-B and HLA-C Tissue Antigens 82 2013 43 47
21. P.I. de Bakker, G. McVean, P.C. Sabeti, M.M. Miretti, T. Green, J. Marchini, X. Ke, A.J. Monsuur, P. Whittaker, and M. Delgado et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC Nat. Genet. 38 2006 1166 1172
22. *1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease Gastroenterology 141 2011 864 871 e1-e5
23. *06 and HLA-DRB1 genes in susceptibility to psoriatic arthritis: comparison with psoriasis and undifferentiated inflammatory arthritis Ann. Rheum. Dis. 67 2008 677 682
24. X. Jia, B. Han, S. Onengut-Gumuscu, W.M. Chen, P.J. Concannon, S.S. Rich, S. Raychaudhuri, and P.I. de Bakker Imputing amino acid polymorphisms in human leukocyte antigens PLoS ONE 8 2013 e64683
25. S. Raychaudhuri, C. Sandor, E.A. Stahl, J. Freudenberg, H.S. Lee, X. Jia, L. Alfredsson, L. Padyukov, L. Klareskog, and J. Worthington et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis Nat. Genet. 44 2012 291 296
26. B. Han, D. Diogo, S. Eyre, H. Kallberg, A. Zhernakova, J. Bowes, L. Padyukov, Y. Okada, M.A. González-Gay, and S. Rantapää- Dahlqvist et al. Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity Am. J. Hum. Genet. 94 2014 522 532
27. F. Pereyra, X. Jia, P.J. McLaren, A. Telenti, P.I. de Bakker, B.D. Walker, S. Ripke, C.J. Brumme, S.L. Pulit, M. Carrington International HIV Controllers Study The major genetic determinants of HIV-1 control affect HLA class I peptide presentation Science 330 2010 1551 1557
28. J.N. Foo, K.E. Smedby, N.K. Akers, M. Berglund, I.D. Irwan, X. Jia, Y. Li, L. Conde, H. Darabi, and P.M. Bracci et al. Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk Am. J. Hum. Genet. 93 2013 167 172
29. *08 Ann. Neurol. 72 2012 927 935
30. W. Taylor, D. Gladman, P. Helliwell, A. Marchesoni, P. Mease, H. Mielants CASPAR Study Group Classification criteria for psoriatic arthritis: development of new criteria from a large international study Arthritis Rheum. 54 2006 2665 2673
31. S.S. Rich, P. Concannon, H. Erlich, C. Julier, G. Morahan, J. Nerup, F. Pociot, and J.A. Todd The Type 1 Diabetes Genetics Consortium Ann. N Y Acad. Sci. 1079 2006 1 8
32. J. Robinson, J.A. Halliwell, H. McWilliam, R. Lopez, P. Parham, and S.G. Marsh The IMGT/HLA database Nucleic Acids Res. 41 Database issue 2013 D1222 D1227
33. A. Cortes, J. Hadler, J.P. Pointon, P.C. Robinson, T. Karaderi, P. Leo, K. Cremin, K. Pryce, J. Harris, S. Lee International Genetics of Ankylosing Spondylitis Consortium (IGAS) Australo-Anglo-American Spondyloarthritis Consortium (TASC) Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS) Nord-Trøndelag Health Study (HUNT) Spondyloarthritis Research Consortium of Canada (SPARCC) Wellcome Trust Case Control Consortium 2 (WTCCC2) Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci Nat. Genet. 45 2013 730 738
34. A. Clop, A. Bertoni, S.L. Spain, M.A. Simpson, V. Pullabhatla, R. Tonda, C. Hundhausen, P. Di Meglio, P. De Jong, and A.C. Hayday et al. An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element PLoS ONE 8 2013 e71690
35. A. Asahina, S. Kuwata, K. Tokunaga, T. Juji, and H. Nakagawa Study of aspartate at residue 9 of HLA-C molecules in Japanese patients with psoriasis vulgaris J. Dermatol. Sci. 13 1996 125 133
36. *5703-peptide complexes and identification of related HLAs potentially associated with long-term nonprogression J. Immunol. 175 2005 2459 2468
37. E.F. Pettersen, T.D. Goddard, C.C. Huang, G.S. Couch, D.M. Greenblatt, E.C. Meng, and T.E. Ferrin UCSF Chimera - a visualization system for exploratory research and analysis J. Comput. Chem. 25 2004 1605 1612
38. M.K. Choy, and M.E. Phipps MICA polymorphism: biology and importance in immunity and disease Trends Mol. Med. 16 2010 97 106
39. P.H. Lo, Y. Urabe, V. Kumar, C. Tanikawa, K. Koike, N. Kato, D. Miki, K. Chayama, M. Kubo, Y. Nakamura, and K. Matsuda Identification of a functional variant in the MICA promoter which regulates MICA expression and increases HCV-related hepatocellular carcinoma risk PLoS ONE 8 2013 e61279
40. S.E. Buxton, R.J. Benjamin, C. Clayberger, P. Parham, and A.M. Krensky Anchoring pockets in human histocompatibility complex leukocyte antigen (HLA) class I molecules: analysis of the conserved B ("45") pocket of HLA-B27 J. Exp. Med. 175 1992 809 820