Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
An. bras. dermatol
;
91(1): 45-48, Jan.-Feb. 2016. tab, graf
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Psoriasis
/
Analyse de séquence d'ADN
/
Mutation faux-sens
/
Protéines adaptatrices de signalisation CARD
/
Guanylate cyclase
/
Protéines membranaires
Type d'étude:
Etude d'étiologie
/
Etude d'incidence
/
Étude observationnelle
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Adolescent
/
Adulte
/
Adulte très âgé
/
Aged80
/
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
An. bras. dermatol
Thème du journal:
Dermatologie
Année:
2016
Type:
Article
/
descriptif de projet
Pays d'affiliation:
Chine
Institution/Pays d'affiliation:
Jinan University/CN
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