title: Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort.
abstract: BACKGROUND
  Recent mutation analysis identified several missense mutations in CARD14 in psoriasis.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  None of the new definite variants were pathogenic. The other pathogenic mutations for PsV are still elusive in our cohort.
authors.affiliation: Institute of Mycology, Jinan University, Guangzhou, China.
authors.forename: Kunju
authors.initials: K
authors.lastname: Zhu
authors.affiliation: Affiliated Hospital, Guangdong Medical College, Zhanjiang, China.
authors.forename: Ge
authors.initials: G
authors.lastname: Shi
authors.affiliation: Affiliated Hospital, Guangdong Medical College, Zhanjiang, China.
authors.forename: Huan
authors.initials: H
authors.lastname: Liu
authors.affiliation: Affiliated Hospital, Guangdong Medical College, Zhanjiang, China.
authors.forename: Chengyao
authors.initials: C
authors.lastname: Zhu
authors.affiliation: Affiliated Hospital, Guangdong Medical College, Zhanjiang, China.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Fan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D015331:Cohort Studies; D005787:Gene Frequency; D060005:Genotyping Techniques; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D011237:Predictive Value of Tests; D011565:Psoriasis / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D053468:CARD Signaling Adaptor Proteins; D008565:Membrane Proteins; C426243:CARD14 protein, human; D006162:Guanylate Cyclase