Psoriasis and Haemochromatosis

Haemochromatosis, Psoriasis Vulgaris and Other Diseases Associated with HLA Class I Alleles

Collaboration Form
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Professor Roger L. Dawkins

Background
Some HLA - disease associations appear to involve Class I rather that Class II. Haemochromatosis has been known to be associated with HLA-A3 and other polymorphic markers telomeric of HLA-A. In 1996, the C282Y mutation of the HFE gene was shown to be the best marker for the disease (Feder et al. 1996). Recently it was reported that a mutation of the HFE gene is found commonly but not universally in patients. The HFE gene is similar to PERB11 (MIC), Zinc-alpha-2-glycoprotein, neonatal Fc Receptor and HLA Class I (Tay et al. 1997). It remains to be shown whether HFE or other similar genes are involved directly in the pathogenesis of haemochromatosis, but it seems likely that the mechanism will be unraveled during the course of the workshop. A recent paper in Nature described the crystal structure of HFE and its binding to transferrin receptor (Bennett et al. 2000).

Psoriasis has been associated with HLA-Cw6 (Tiilikainen et al. 1980), but again there are associations with other polymorphisms telomeric or close to HLA-B. Several candidate genes are being investigated actively. These include the S gene, SC1, Pg8 and PERB11(MIC). We have recently shown that PERB11 (MIC) is present in the epidermis including ducts and follicles in normal and affected skin and we therefore suggest a role for PERB11 and other MHC genes in the pathogenesis of psoriasis (Tay et al. 2000). Oka and colleagues have also localised the susceptibility region for Psoriasis Vulgaris telomeric to the HLA-C gene (Oka et al. (In Press)).

Other diseases have also been associated with genes in the telomeric part of the MHC. Please note that Ankylosing Spondylitis and HLA-B27 will be covered by a separate workshop component.

Objectives

To define polymorphic markers in the region telomeric of HLA-B.
To identify haplotypes of Class I, MOG, HFE and other telomeric loci.
To include genomic markers such as SNP and other sequence polymorphisms.
To study patients with haemochromatosis and psoriasis and especially those who lack common markers. In relation to haemochromatosis, patients without the tyrosine residue at position 282 will be collected and shared between participants. In relation to psoriasis, we are particularly keen to study affected and non-affected biopsies.
To study relevant polymorphisms in diverse racial groups, particularly Africa, Asia and Oceania.

Study Plan

To pool data on polymorphisms telomeric of HLA-B.
To associate these polymorphisms with disease.
To determine the likely susceptibility genes or locations.
To provide a resource for study of the disease mechanisms.

Interactions with other components
This component of the workshop will interact with:

the HLA typing subcommittee including specific collaborations with the SNP group (Geraghty), SBT (Tilanus),
the Anthropology/Diversity subcommittee (Erlich) and
the Central Informatics Facility (Hansen)

Next step
Please complete the proforma (MS Word format) or pdf format if you have not done so.

Proposed Committee:

LIST OF RELEVANT PUBLICATIONS

Allen MH, Veal C, Faassen A, Powis SH, Vaughan RW, Trembath RC, Barker JNWN: A non-HLA gene within the MHC in psoriasis. The Lancet 353:1589, 1999.

Austin L. Huges, Meredith Yeager, Amy E. Ten Elshof, Chorney MJ: A new taxonomy of mammalian MHC class I molecules. Immunology Today 20(1):22, 1999.

Barton JC, Rothenberg BE, Bertoli LF, Acton RT: Diagnosis of hemochromatosis in family members of probands: A comparison of phenotyping and HFE genotyping. Genetics in Medicine 1(3):89, 1999.

Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT: Two Novel Missense Mutations of the HFE Gene (I105T anmd G93R) and Identification of the S65C Mutation in Alabama Hemochromatosis Probands. Blood Cells, Molecules, anmd Diseases 25(9):146, 1999.

Bauer S, Groh V, Wu J, Steinle A, Phillips JH, Lanier LL, Spies T: Activation of NK Cells and T Cells by NKG2D, a Receptor for Stress-Inducible MICA. Science 285:727, 1999.

Bennett MJ, Lebron JA, Bjorkman PJ: Crystal structure of the hereditary haemohromatosis protein HFE complexed with transferrin receptor. Nature 403(6 January):46, 2000.

Bos JD, De Rie MA: The pathogenesis of psoriasis: immunological facts and speculations. Immunology Today {Review} 20(1):40, 1999.

Braud VM, Allan DSJ, McMichael AJ: Functions of nonclassical MHC and non-MHC-encoded class I molecules. Current Opinion in Immunology 11:100, 1999.

Capon F, Novelli G, Semprini S, Clementi M, Nudo M, Vultaggio P, Mazzanti C, Gobello T, Botta A, Fabrizi G, Dallapiccola B: Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1. Thje Journal of Investigative Dermatology 112(1):101, 1998.

Cattley SK, Longman N, Dawkins RL, Gaudieri S, Kulski JK, Leelayuwat C: Phylogenetic analysis of primate MIC (PERB11) sequences suggests that the representation of the gene family differs in different primates: comparison of MIC (PERB11) and C4. European Journal of Immunogentics 26(2):233, 1999.

Dawkins R, Berry J, Martinez P, Gaudieri S, Hui J, Cattley S, Longman N, Kulski J, Carnegie P: Potential for Paralogous Mapping to Simplify the Genetics of Diseases and Functions Associated with MHC Haplotypes. MHC Evolution In press, 1999.

Dawkins R, Leelayuwat C, Gaudieri S, Tay G, Hui J, Cattley S, Martinez P, Kulski J: Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease. Immunological Reviews 167:275, 1999.

Dunn D, Williamson J, Cattley S, Tay G, Gaudieri S, Leelayuwat C, Dawkins R: Co-evolution of HLA-B and PERB11 (MICA): Significance of independent triplet expansion with the transmembrane region of PERB11.1 (MICA). Journal of Molecular Evolution In Press(In Press):In Press, 1999.

Favre M, Orth, G., Majewski, S., Baloul, S., Pura, A., and Jablonska, S.: Psoriasis: A Possible Reservoir for Human Papillomavirus Type 5, the Virus Associated with Skin Carcinomas of Epidermodysplasia Verruciformis. J Invest Dermatol 110:311, 1998.

Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Jr., Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK, et al.: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics 13(4):399, 1996.

Fodil N, Pellet P, Laloux L, Hauptmann G, Theodorou I, Bahram S: MICA haplotypic diversity. Immunogenetics 49:557, 1999.

Gambelunghe G, Falorni A, Ghaderi M, Laureti S, Tortoioli C, Santeusanio F, Brunetti P, Sanjeevi B: Microsatellite polymorphism of the MHC class I Chain-related (MIC-A and MIC-B) genes mark the risk for autoimmune Addison's Disease. The Journal of Clinical Endocrinology & Metabolism 84(10):3701, 1999.

Gladman DD, Cheung C, Ng C-M, Wade JA: HLA-C Locus Alleles in Patients with Psoriatic Arthritis (PsA). Human Immunology 60:259, 1999.

Gonzalez S, Martinez-Borra J, Torre-Alonso JC, Gonzalez-Roces S, Sanchez del Rio J, Rodriguez Perez A, Brautbar C, Lopez-Larrea C: The MICA-A9 triplet repeat polymorphism in the transmembrane region confers additional susceptibility to the development of psoriatic arthritis and is independent of the association of Cw*0602 in psoriasis. Arthritis & Rheumatism 42(5):1010, 1999.

Groh V, Rinehart R, Secrist H, Bauer S, Grabstein K, H., Spies T: Broad tumor-associated expression and recognition by tumor-derived gamma delta T cells of MICA and MICB. Immunology 96:6879, 1999.

Groh V, Steinle A, Bauer S, Spies T: Recognition of stress-induced MHC molecules by intestinal epithelial gammadelta T cells. Science 279(5357):1737, 1998.

Groh V, Steinle A, Bauer S: Recognition by human gut gamma delta cells of stress inducible major histocompatibility molecules on enterocytes. Gut 43:166, 1998.

Guerrin M, Simon M, Montezin M, Haftek M, Vincent C, Serre G: Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation. Journal of Biological Chemistry 273(35):22640, 1998.

Jeffrey GP, Chakrabarti S, Hegele RA, Adams PC: Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nature Genetics 22:325, 1999.

Jenisch S, Koch S, Henseler T, Nair RP, Elder JT, Watts CE, Westphal E, Voorhees JJ, Christophers E, Kronke M: Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris. Tissue Antigens 54:439, 1999.

Jenisch S, Westphal E, Nair RP, Stuart P, Voorhees JJ, Christophers E, Kronke M, Elder JT, Henseler T: Linkage disequilibrim analysis of familial psoriasis: identification of multiple disease-associated MHC haplotypes. Tissue Antigens 53:135, 1999.

Kasahara M: Genome dynamics of the major histocompatibility complex: insights from genome paralogy. Immunogenetics 50:134, 1999.

Katsuyama Y, Ota M, Ando H, Saito S, Mizuki N, Kera J, Bahram S, Nose Y, Inoko H: Sequencing based typing for genetic polymorphisms in exons 2, 3, and 4 of the MICA gene. Tissue Antigens 54:178, 1999.

Komatsu-Wakui M, Tokunaga K, Ishikawa Y, Kashiwase K, Moriyama S, Tsuchiya N, Ando H, Shiina T, Geraghty D, Inoko H, Juji T: MICA polymorphism in Japanese and a MICA-MICB null haplotype. Immunogenetics 49(620-628), 1999.

Lee S-C, Lee J-B, Seo J-J, Kim YP: Expression of Trichohyalin in Dermatological Disorders: a Comparative Study with Involucrin and Filaggrin by Immunohistochemical Staining. Acta Derm Venereol 79:122, 1999.

Li P, Willie ST, Bauer S, Morris DL, Spies T, Strong RK: Crystal Structure of the MHC Class I Homolog MIC-A, a gd T Cell Ligand. Immunity 10:577, 1999.

Majewski S, Joblonska S: Papillomavirus and autoimmunity in psoriasis. Immunology Today , 1999.

Mendoza-Rincon J, Arguello JR, Perez-Rodriguez M, McWhinnie A, Marsh SGE, Fischer G, Madrigal JA: Characterization of the MICA polymorphism by sequence-specific oligonucleotide probing. Immunogenetics 49:471, 1999.

Mizuki N, Ota M, Katsuyama Y, Yabuki K, Ando H, Goto K, Nakamura S, Bahram S, Ohno S, Inoko H: Association analysis between the MIC-A and HLA-B alleles in Japanese patients with Behcet's Disease. Arthritis & Rheumatism 42(9):1961, 1999.

Mura C, Raguenes O, Ferec C: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93(8):2502, 1999.

Nickoloff BJ, Wrone-Smith T, Bonish B, Porcelli SA: Response of murine and normal human skin to injection of allogeneic blood-derived psoriatic immunocytes. Archives of Dermatology 135:546, 1999.

Nickoloff BJ, Wrone-Smith T: Injection of pre-psoriatic skin with CD4+ T cells induces psoriasis. American Journal of Pathology 155(1):145, 1999.

Oka A, Tamiya G, Tomizawa M, Ota M, Katsuyama Y, Shiina T, Yoshitome M, Iizuka M, Sasao Y, Iwashita K, Kawakubo Y, Sugai J, Ozawa A, Ohkido M, Kimura M, Bahram S, Inoko H: Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. (In press).

Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC, Bacon BR, Sly W: Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc. Natl. Acad. Sci. 94:2534, 1997.

Pellet P, Vaneensberghe C, Debre P, Sumyuen MH, Theodorou I: MIC genes in non-human primates. European Journal of Immunogenetics 26(2):239, 1999.

Petersdorf EW, Shuler KB, Longton GM, Spies T, Hansen JA: Population study of allelic diversity in the human MHC class I-related MIC-A gene. Immunogenetics 49:605, 1999.

Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, Sardini C, Vasta F, Gasparini P: Hereditary Hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. The New England Journal of Medicine 341(10):725, 1999.

Powell LW: Hereditary Haemochromatosis. Pathology 32:24, 2000.

Pratiwi R, Fletcher LM, Pyper WR, Do KA, Crawford DHG, Powell LW, Jazwinska EC: Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression. Journal of Heputology 31:39, 1999.

Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascola G, Carella M, Zelante L, Kelly AL, Cox TM, Gasparini P, Camaschella C: Juvenile Hemochromatosis Locus Maps to Chromosome 1q. The American Society of Human Genetics 64:1388, 1999.

Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R, Jr., Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN: A 1.1-Mb transcript map of the hereditary hemochromatosis locus. Genome Research 7(5):441, 1997.

Saeki H, Nakagawa H, Asahina A, Tamaki K, Shibata Y, Kuwata S: Polymorphisms of HLA-DM genes in Japanese patients with psoriasis vulgaris. British Journal of Dermatology 141:113, 1999.

Semprini S, Capon F, Bovolenta S, Bruscia E, Pizzuti A, Fabrizi G, Schietroma C, Zambruno G, Dallapiccola B, Novelli G: Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility. Hum Genet 104:130, 1999.

Shiina T, Tamiya G, Oka A, Takishima N, Yamagata T, Kikkawa E, Iwata K, Tomizawa M, Okuaki N, Kuwano Y, Watanabe K, Fukuzumi Y, Itakura S, Sugawara C, Ono A, Yamazaki M, Tashiro H, Ando A, Ikemura T, Soeda E, Kimura M, Bahram S, Inoko H: Molecular dynamics of MHC genesis unraveled by sequence analysis of the 1,796,938-bp HLA class I region. PNAS 96(23):13282, 1999.

Stephens HAF, Vaughan RW, Collins R, Kondeatis E, Theron J, Payne A: Towards a molecular phototyping system for allelic variants of MICA, encoded by polymorphisms in exons 2,3 and 4 of MHC class I chain-related genes. Tissue Antigens 53:167, 1999.

Tay G, Hui J, Gaudieri S, Schmitt-Egenolf M, Martinez O, Leelayuwat C, Williamson J, Eiermann T, Dawkins R: PERB11 (MIC): A Polymorphic MHC Gene is Expressed in Skin and is associated with Psoriasis - PERB11 (MIC) is associated with Psoriasis. Clinical and Experimental Immunology In Press, 2000.

Tazi Ahnini R, Camp NJ, Cork MJ, Mee JB, Keohane SG, Duff GW, di Giovine FS: Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis. Human Molecular Genetics 8(6):1135, 1999.

Visser CJT, Tilanus MGJ, Tatari Z, Zwan A-Wvd, Bakker R, Rozemuller EH, Schaeffer V, Tamouza R, Charron D: Sequencing-based typing of MICA reveals 33 alleles: a study on linkage with classical HLA genes. Immunogenetics 49:561, 1999.

Wallace GR, Verity DH, Delamaine LJ, Ohno S, Inoko H, Ota M, Mizuki N, Yabuki K, Kondiatis E, Stephens HAF, Madanat W, Kanawati CA, Stanford MR, Vaughan RW: MIC-A allele profiles and HLA class I associations in Behcet's disease. Immunogenetics 49:613, 1999.

Weissenborn SJ, Hopfl R, Weber F, Smola H, Pfister HJ, Fuchs PG: High Prevalence of a Variety of Epidermodysplasia Verruciformis-Associated Human Papillomaviruses in Psoriatic Skin of Patients Treated or not Treated with PUVA. The Journal of Investigative Dermatology 113:122, 1999.

Yabuki K, Mizuki N, Ota M, Katsuyama Y, Palimeris G, Stavropoulos C, Koumantaki Y, Spyropoulou M, Giziaki E, Kaklamani Y, Kaklamani E, Inoko H, Ohno S: Association of MICA gene and HLA-B*5101 with Behcet's Disease in Greece. Investigative Ophthalomolgy & Visual Science. 40(9):1921, 1999.

Yabuki K, Ota M, Goto K, Kimura T, Nomura E, Ohno S, Mizuki N, Katsuyama Y, Makysymowych WP, Bahram S, Kimura M, Inoko H: Triplet repeat polymorphism in the MICA gene in HLA-B27 positive and negative Caucasian patients with Ankylosing Spondylitis. Human Immunology 60:83, 1999.

Yao Z, Volgger A, Helmberg W, Keller E, Fan L, Chandanayingyong D, Albert E: Definition of new alleles of MIC-A using sequencing-based typing. European Journal of Immunogenetics 26(2):225, 1999.

Zwirner NW, Dole K, Stastny P: Differential Surface Expression of MICA by Endothelial Cells, Fibroblasts, Keratinocytes, and Monocytes. Human Immunology 60:323, 1999.

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