Genetic underpinnings of the psoriatic spectrum

Author:

Hüffmeier Ulrike1ORCID,Klima Janine2,Hayatu Mohammad Deen2ORCID

Affiliation:

1. Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg Institute of Human Genetics Schwabachanlage 10 Erlangen Deutschland

2. Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg Institute of Human Genetics Schwabachanlage 10 Erlangen Germany

Abstract

Abstract The psoriatic field includes both rare and common subtypes. Common complex forms include psoriasis vulgaris and psoriatic arthritis. In these subtypes, certain HLA alleles remain the most relevant genetic factors, although genome-wide association studies lead to the detection of more than 80 susceptibility loci. They mainly affect innate and adaptive immunity and explain over 28 % of the heritability. Pustular psoriasis comprises a group of rarer subtypes. Using exome sequencing, several disease genes were identified for mainly generalized pustular psoriasis, and an oligogenic inheritance is likely. Treatment studies based on the affected IL–36 pathway indicate a high response rate in this subtype further supporting the pathophysiological relevance of the affected gene products.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

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