title: CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of psoriasis vulgaris in a Chinese cohort.
abstract: Genome-wide association studies have found the single nucleotide polymorphism (SNP) c.C2458T, at the caspase recruitment domain family member 14 (CARD14) gene, to be associated with psoriasis. But little is known about the association of c.C2458T and clinical features of psoriasis vulgaris (PsV) in a Chinese cohort. This study was undertaken to further explore the relationship between c.C2458T and risk of psoriasis in southern Chinese subjects and to evaluate the SNP effect on the clinical features of psoriasis. A case-control study was performed involving 345 PsV patients and 206 controls. The variant of c.C2458T was typed using a SNaPshot assay. Statistical analysis was performed using SPSS version 13.0 software. In analysis of the basic situation of the sample, no difference was observed between cases and controls for age and sex. In the frequency distribution of genotypes and alleles in patients and controls, we found no association between the SNP and the risk of PsV. We performed a stratified analysis according to the age of onset, family history and Psoriasis Area and Severity Index (PASI) subphenotypes. We found that the CC genotype was associated significantly with an increased familial history of PsV. The main finding of our study was that the CC genotype was more common in familial cases than in sporadic cases. However, there were no significant differences found in other subphenotypes of age of onset or PASI between patients positive and those negative for a particular phenotype. In conclusion, the SNP c.C2458T may have significant effects on heritability of PsV in our Chinese population.
authors.affiliation: Department of Anesthesiology, the First Hospital of Jilin University, Changchun, China.
authors.forename: Chunsheng
authors.initials: C
authors.lastname: Feng
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Li
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
authors.forename: Yi-Ming
authors.initials: YM
authors.lastname: Fan
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
authors.forename: Ge
authors.initials: G
authors.lastname: Shi
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
authors.forename: Kun-Ju
authors.initials: KJ
authors.lastname: Zhu
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics*; D055815:Young Adult
chemical_list: D053468:CARD Signaling Adaptor Proteins; D008565:Membrane Proteins; C426243:CARD14 protein, human; D006162:Guanylate Cyclase
keywords: caspase recruitment domain family member 14; clinical features; polymorphism (c.C2458T); psoriasis vulgaris