Abstract: Objective: To study the correlation between IL36RN gene mutation and generalized pustular psoriasis (GPP) in Chinese Han population, and to analyze the correlation between IL36RN genotype and GPP clinical phenotype. Methods: DNA from peripheral blood of 107 patients with GPP was extracted. All exons of IL36RN gene were sequenced. The clinical phenotype of the patients with IL36RN and non-IL36RN mutations carriers or IL36RN recessive and heterozygous mutations carriers were compared. Results: Nine mutation sites were found in 45 patients, including three new mutations. Of 45 patients, 25 patients with recessive mutations and 20 patients with heterozygous mutations. We found that earlier age of disease onset, larger prevalence of PV and more markedly risk of recurrent trouble were associated with IL36RN mutations, and more markedly risk of recurrent trouble and larger prevalence of systemic inflammation related to recessive mutations. Conclusion: IL36RN gene mutations is not only associated with the pathogenesis but also with the clinical phenotype of GPP.

Key words: generalized pustular psoriasis, IL36RN, genotype-clinical phenotype