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Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial

Dorottya M Berki1, Lu Liu2, Siew-Eng Choon3

  • 1Department of Medical and Molecular Genetics, King's College London, London, UK.

The Journal of Investigative Dermatology
|July 24, 2015
PubMed

Insights

CARD14 gene variants are not linked to psoriasis vulgaris or pityriasis rubra pilaris. However, a specific CARD14 variant is associated with generalized pustular psoriasis in Asian populations, aiding in disease stratification.

Area of Science:

  • Dermatology
  • Genetics
  • Immunology

Background:

  • Caspase recruitment family member 14 (CARD14) is a scaffold protein crucial for NF-κB signaling in skin keratinocytes.
  • Gain-of-function CARD14 mutations are implicated in psoriasis vulgaris (PV) and pityriasis rubra pilaris (PRP), and potentially pustular psoriasis.

Purpose of the Study:

  • To systematically analyze CARD14 alleles in a large cohort to determine their contribution to various skin conditions.
  • To investigate the role of CARD14 in the pathogenesis of psoriasis vulgaris, pityriasis rubra pilaris, and pustular psoriasis.

Main Methods:

  • A systematic CARD14 gene analysis was performed on 416 patients, including those with familial PV, erythrodermic psoriasis, acral pustular psoriasis, sporadic PRP, and generalized pustular psoriasis (GPP).
  • Genetic variants were identified and their association with specific conditions was statistically evaluated.

Main Results:

  • No disease-associated CARD14 alleles were found in familial PV, erythrodermic psoriasis, acral pustular psoriasis, or sporadic PRP cohorts.
  • A low-frequency CARD14 variant (p.Asp176His), causing constitutive CARD14 oligomerization, was significantly associated with GPP in Asian populations (P=8.4×10(-5); OR=6.4).

Conclusions:

  • CARD14 mutations are not a significant factor in the development of psoriasis vulgaris or sporadic pityriasis rubra pilaris.
  • The identified CARD14 variant may serve as a biomarker for stratifying patients with generalized pustular psoriasis, particularly in Asian individuals.

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