Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
An. bras. dermatol
; 91(1): 45-48, Jan.-Feb. 2016. tab, graf
Artículo
en Inglés
| LILACS
| ID: lil-776428
Biblioteca responsable:
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.
Texto completo:
Disponible
Colección:
Bases de datos internacionales
Base de datos:
LILACS
Asunto principal:
Psoriasis
/
Análisis de Secuencia de ADN
/
Mutación Missense
/
Proteínas Adaptadoras de Señalización CARD
/
Guanilato Ciclasa
/
Proteínas de la Membrana
Tipo de estudio:
Estudio de etiología
/
Estudio de incidencia
/
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Adulto
/
Anciano
/
Anciano de 80 o más años
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2016
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
China
Institución/País de afiliación:
Jinan University/CN