Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort*

Kunju Zhu, Ge Shi, Huan Liu, Chengyao Zhu, Yiming Fan

Recent mutation analysis identified several missense mutations in CARD14 in psoriasis. We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative missense mutations. 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. 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. None of the new definite variants were pathogenic. The other pathogenic mutations for PsV are still elusive in our cohort.