Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
An. bras. dermatol
; 91(1): 45-48, Jan.-Feb. 2016. tab, graf
Article
em En
| LILACS
| ID: lil-776428
Biblioteca responsável:
BR1.1
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Psoríase
/
Análise de Sequência de DNA
/
Mutação de Sentido Incorreto
/
Proteínas Adaptadoras de Sinalização CARD
/
Guanilato Ciclase
/
Proteínas de Membrana
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
An. bras. dermatol
Assunto da revista:
DERMATOLOGIA
Ano de publicação:
2016
Tipo de documento:
Article
/
Project document
País de afiliação:
China
País de publicação:
Brasil