Genetic underpinnings of the psoriatic spectrum.
Ulrike HüffmeierJanine KlimaMohammad Deen HayatuPublished in: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V (2023)
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.
Keyphrases
- genome wide
- genome wide association
- copy number
- mitochondrial dna
- dna methylation
- rheumatoid arthritis
- ankylosing spondylitis
- disease activity
- immune response
- case control
- atopic dermatitis
- genome wide identification
- systemic lupus erythematosus
- loop mediated isothermal amplification
- genome wide analysis
- label free
- real time pcr
- replacement therapy
- genome wide association study