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 English
| 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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Psoriasis
/
Sequence Analysis, DNA
/
Mutation, Missense
/
CARD Signaling Adaptor Proteins
/
Guanylate Cyclase
/
Membrane Proteins
Type of study:
Etiology study
/
Incidence study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Adolescent
/
Adult
/
Aged
/
Aged, 80 and over
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2016
Document type:
Article
/
Project document
Affiliation country:
China
Institution/Affiliation country:
Jinan University/CN