Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
An. bras. dermatol
;
91(1): 45-48, Jan.-Feb. 2016. tab, graf
Artigo
em Inglês
| LILACS
| ID: lil-776428
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
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:
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Adolescente
/
Adulto
/
Idoso
/
Aged80
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
An. bras. dermatol
Assunto da revista:
Dermatologia
Ano de publicação:
2016
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
China
Instituição/País de afiliação:
Jinan University/CN
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