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.
Keywords:
Mutation; Psoriasis; Sequence analysis, DNA
