Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
- Resource Type
- article
- Authors
- Zhu, Kunju; Shi, Ge; Liu, Huan; Zhu, Chengyao; Fan, Yiming
- Source
- Anais Brasileiros de Dermatologia. February 2016 91(1)
- Subject
- Mutation
Psoriasis
Sequence analysis, DNA
- Language
- English
- ISSN
- 0365-0596
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.