Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
An. bras. dermatol
; 91(1): 45-48, Jan.-Feb. 2016. tab, graf
Article
in En
| LILACS
| ID: lil-776428
Responsible library:
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.Key words
Full text:
1
Index:
LILACS
Main subject:
Psoriasis
/
Sequence Analysis, DNA
/
Mutation, Missense
/
CARD Signaling Adaptor Proteins
/
Guanylate Cyclase
/
Membrane Proteins
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
An. bras. dermatol
Journal subject:
DERMATOLOGIA
Year:
2016
Type:
Article
/
Project document