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PERB11 (MIC): a polymorphic MHC gene is expressed in skin and single nucleotide polymorphisms are associated with psoriasis.
Department of Dermatology, School of Medicine, Humboldt University, Berlin, Germany.ORCID-id: 0000-0002-3858-8474
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2000 (Engelska)Ingår i: Clinical and Experimental Immunology, ISSN 0009-9104, E-ISSN 1365-2249, Vol. 119, nr 3, s. 553-558Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

The susceptibility genes for psoriasis remain to be identified. At least one of these must be in the major histocompatibility complex (MHC) to explain associations with alleles at human leucocyte antigen (HLA)-A, -B, -C, -DR, -DQ and C4. In fact, most of these alleles are components of just two ancestral haplotypes (AHs) designated 13.1 and 57.1. Although relevant MHC gene(s) could be within a region of at least 4 Mb, most studies have favoured the area near HLA-B and -C. This region contains a large number of non-HLA genes, many of which are duplicated and polymorphic. Members of one such gene family, PERB11.1 and PERB11.2, are expressed in the skin and are encoded in the region between tumour necrosis factor and HLA-B. To investigate the relationship of PERB11.1 alleles to psoriasis, sequence based typing was performed on 97 patients classified according to age of onset and family history. The frequency of the PERB11.1*06 allele is 44% in type I psoriasis but only 7% in controls (Pc = 0.003 by Fisher's exact test, two-tailed). The major determinant of this association is a single nucleotide polymorphism (SNP) within intron 4. In normal and affected skin, expression of PERB11 is mainly in the basal layer of the epidermis including ducts and follicles. PERB11 is also present in the upper keratin layers but there is relative deficiency in the intermediate layers. These findings suggest a possible role for PERB11 and other MHC genes in the pathogenesis of psoriasis.

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John Wiley & Sons, 2000. Vol. 119, nr 3, s. 553-558
Nyckelord [en]
psoriasis;major histocompatibility complex;ancestral haplotypes;PERB11 (MIC)
Nationell ämneskategori
Dermatologi och venereologi
Identifikatorer
URN: urn:nbn:se:umu:diva-82431DOI: 10.1046/j.1365-2249.2000.01140.xISI: 000085503700024PubMedID: 10691930OAI: oai:DiVA.org:umu-82431DiVA, id: diva2:661172
Tillgänglig från: 2013-11-01 Skapad: 2013-11-01 Senast uppdaterad: 2018-06-08Bibliografiskt granskad

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Schmitt-Egenolf, Marcus

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