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Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients
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A large-scale screen for coding variants predisposing to psoriasis.

Huayang Tang1, Xin Jin2, Yang Li1

  • 11] Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, China. [2].

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|November 12, 2013
PubMed
Summary
This summary is machine-generated.

This study investigated genetic variants in psoriasis, identifying specific missense single-nucleotide variants (SNVs) in genes like IL23R and GJB2. These findings suggest coding variants contribute a limited portion to psoriasis genetic risk.

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Area of Science:

  • Genetics
  • Dermatology
  • Immunology

Background:

  • Psoriasis is a chronic inflammatory skin disease with a significant genetic component.
  • Understanding the role of functional coding variants is crucial for elucidating psoriasis pathogenesis.

Purpose of the Study:

  • To identify functional coding variants associated with psoriasis in the Chinese population.
  • To assess the contribution of these variants to the overall genetic risk of psoriasis.

Main Methods:

  • Exome sequencing was performed on 781 psoriasis cases and 676 controls.
  • Targeted sequencing of 1,326 candidate genes was conducted in 9,946 psoriasis cases and 9,906 controls.
  • Analysis focused on nonsynonymous single-nucleotide variants (SNVs).

Main Results:

  • Identified low-frequency missense SNVs in IL23R and GJB2 associated with psoriasis.
  • Discovered common missense SNVs in LCE3D, ERAP1, CARD14, and ZNF816A at genome-wide significance.
  • Found suggestive evidence for association with rare missense SNVs in FUT2 and TARBP1.

Conclusions:

  • Specific coding variants in IL23R, GJB2, LCE3D, ERAP1, CARD14, and ZNF816A are associated with psoriasis.
  • The identified coding variants contribute a limited fraction to the overall genetic risk of psoriasis.