Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population.

Background: Psoriasis is a chronic inflammatory disorder of the skin, and genetic factors are reported to be involved in the disease pathogenesis. Many studies have named psoriasis candidate genes.

Objective: In this study, we determined the mutation frequency of 7 variable genes in 1,027 psoriatic patients and investigated its possible mechanism associated with psoriasis.

Method: A total of 7 variable genes from 1,027 psoriatic patients were amplified and sequenced using the Sanger method. The mutation frequency was compared to that of non-psoriatic individuals in Asia using information from databases.

Results: Among the 7 investigated genes, the mutation frequency of ACOT12 (c.80A>G, 9.98% vs. 5.85%, p < .05) and CT62 (c.476C>T,15.8% vs. 9.93%, p < .05) was found to be significantly higher than among non-psoriatic Asian individuals. The mutation frequencies of CASZ1(c.599T>G), SPRED1(c.155A>G), and ACOT12 (c.80A>G) differed significantly between the groups organized by medical history, PASI, and family history. SPRED1 gene variants (17.25% vs. 7.78%, p < .01) showed a stronger association with the family history group at the onset of psoriasis than with the no family history group.

Conclusions: Our results provide a comprehensive correlation analysis of susceptibility genes in psoriasis patients. Clinical characteristics of patients play important roles in the development of psoriatic skin.