부산대학교 도서관

A recent genomic survey identified the association between a common single nucleotide polymorphism (SNP) at the CARD14 gene (SNP rsll652075; p.Arg820Trp) and psoriasis (Psor). Our aim was to replicate the association between this polymorphism and to determine whether other CARD14 variants could explain the association. A total of 400 Psor patients (mean age 47 ± 15; 55% male) and 420 healthy controls (mean age 51 ± 16; 56% male) all Caucasian were genotyped for rsll652075. The rsll652075 CC genotype was significantly associated with Psor in our population (p = 0.003; odds ratios = 1.59; 95% confidence intervals = 1.16-2.19; statistical power >80). The sequencing of the whole CARD14 coding exons in a total of 15 patients did not identify other DNA variants that could explain this association. We did not find significant differences (allele/genotype frequencies) between the patients according to disease severity, presence of arthritis, onset of age, and family history of Psor. We con-firmed the association between SNP rsll652075 at the CARD14 gene and Psor. The absence of other coding variants among our patients supported a direct role for this missense polymorphism on Psor risk. [ABSTRACT FROM AUTHOR]