Identifying a novel locus for psoriatic arthritis

Rheumatology (Oxford). 2016 Jan;55(1):25-32. doi: 10.1093/rheumatology/kev273. Epub 2015 Aug 8.

Abstract

A number of studies have identified genetic risk loci for PsA, the majority of which also confer risk for psoriasis. The stronger heritability of PsA in comparison with psoriasis suggests that there should be risk loci that are specific for PsA. Identifying such loci could potentially inform therapy development to provide more effective treatments for PsA patients, especially with a considerable proportion being non-responsive to current therapies. Evidence of a PsA-specific locus has been previously found at HLA-B27 within the MHC region. A recent study has provided evidence of non-HLA risk loci that are specific for PsA at IL23R, PTPN22 and on chromosome 5q31. Functional characterization of these loci will provide further understanding of the pathways underlying PsA, and enable us to apply genetic findings for patient benefit.

Keywords: Immunochip; Psoriatic arthritis; functional characterization; psoriasis; specific risk loci.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Arthritis, Psoriatic / genetics*
  • Arthritis, Psoriatic / metabolism
  • DNA / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • HLA-B27 Antigen / genetics*
  • HLA-B27 Antigen / metabolism
  • Humans
  • Polymorphism, Single Nucleotide*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / metabolism

Substances

  • HLA-B27 Antigen
  • DNA
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22