Variant Analysis Of CARD14in A Chinese Han Population With Psoriasis Vulgaris And Generalized Pustular Psoriasis

Background: Psoriasis is a common chronic inflammatory skin disease with acomplex genetic background. Psoriasis vulgaris (PsV) is the most common type, andgeneralized pustular psoriasis (GPP) represents a rare life-threatening form of thedisease. CARD14as a susceptibility gene for psoriasis has been studied in European,but rarely in Chinese.Objective: We aimed to detect CARD14mutations in a Chinese Han populationand to identify differences in these mutations between GPP and PsV, pediatric-onsetand late-onset PsV.Methods: CARD14was analyzed by Sanger sequencing in236psoriasis cases and365controls. Differences in allele frequencies between groups were analyzed by χ2and Fisher’s exact tests.Results: We revealed four new and one known rare mutations in the exon ofCARD14: p.Met119Val (c.355A>G), p.Arg166His (c.497G>A), p.Ala216Thr(c.646G>A), p.Thr591Met (c.1772C>T)(rs200102454) and p.Arg682Trp (c.2044C>T)(rs117918077); and one known low frequency mutations p.Asp176His (c.526G>C)(rs144475004), and three missense SNPs: rs2066964, rs34367357, rs11652075. Inour samples, the five rare mutations showed a significant association with psoriasis(Fisher’s exact test: P=0.0091; gene-burden test: P=0.00172), compared with controls.There is no distinction between GPP and PsV or pediatric-onset and late-onset PsVwith mutations of CARD14. Our study indicated that rare mutations of CARD14played an important part in the pathogenesis of psoriasis.Conclusion: By genetic investigation, four new mutations, two know mutations and three SNPs were detected. And our detections provide a new data to the pathogenesisof psoriasis.