Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort

An Bras Dermatol. 2016 Jan-Feb;91(1):45-8. doi: 10.1590/abd1806-4841.20164016.

Abstract

Background: Recent mutation analysis identified several missense mutations in CARD14 in psoriasis.

Objectives: We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative missense mutations.

Methods: A total of 131 patients with PsV and 207 matched controls were included. We conducted sequence analysis of all the exon and exon-intron boundaries of CARD14 in the group of PsV patients and subsequent case control analysis of potential sequence variants of significance.

Results: We found five rare mutations and four of them are annotated or reported. Only the variant (c.1291C>G) has not been reported and annotated, but the variant was also found in controls. No significant difference was detected among all rare variant allele frequencies of patients and controls.

Conclusion: None of the new definite variants were pathogenic. The other pathogenic mutations for PsV are still elusive in our cohort.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Asian People / genetics
  • CARD Signaling Adaptor Proteins / genetics*
  • Case-Control Studies
  • China
  • Cohort Studies
  • Gene Frequency
  • Genotyping Techniques
  • Guanylate Cyclase / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation, Missense*
  • Predictive Value of Tests
  • Psoriasis / genetics*
  • Sequence Analysis, DNA*
  • Young Adult

Substances

  • CARD Signaling Adaptor Proteins
  • Membrane Proteins
  • CARD14 protein, human
  • Guanylate Cyclase

Grants and funding

Financial support: We are most grateful to the members of all the families who have so willingly participated in this study. This work was supported by grants from The China Natural Science Foundation (81301351); The Natural Science Foundation of Guangdong Province (S2013040012415); the Science Foundation of Guangdong medical colloge (B2012083). Foundation for Distinguished Young Talents in Higher Education of Guangdong (2012LYM_0068,2012LYM_0070).