Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients

Abstract

BackgroundPalmoplantar pustulosis is considered to be a localized pustular psoriasis confined to the palms and soles. Mutation of the IL36RN gene, encoding interleukin-36 receptor antagonist (IL-36Ra), is associated with generalized pustular psoriasis, but IL36RN mutations in Chinese palmoplantar pustulosis patients have not previously been investigated.ObjectiveThe aim of this study was to evaluate the mutation of IL36RN in Chinese patients with palmoplantar pustulosis.MethodsFifty-one Han Chinese patients with palmoplantar pustulosis were recruited. All exons and exon-intron boundary sequences of IL36RN were amplified in polymerase chain reactions, and Sanger sequencing of the amplicons was performed.ResultsAmong the 51 palmoplantar pustulosis patients, four different single-base substitutions were identified in nine patients. The mutations were c.140A>G/p.Asn47Ser in five patients, c.258G>A/p.Met86IIe in two patients, and c.115+6T>C and c.169G>A/p.Val57IIe in one patient each. All mutations were heterozygous. Comparison with the human genome database and reported literature suggested that these variants may not be pathogenic mutations causing palmoplantar pustulosis. Furthermore, there was no difference in disease severity, onset age, or disease duration between patients with these heterozygous IL36RN variants and those without (p > 0.1).Study limitationLack of the further evaluation of IL36Ra protein in palmoplantar pustulosis lesions.ConclusionsThe four variants of IL36RN identified did not appear to be associated with the specific phenotypes of palmoplantar pustulosis.

The clinical, humanistic, and economic burden of palmoplantar pustulosis: a structured review

“…Trattner et al reported a cross-sectional study of 102 patients with PPP in which DLQI was recorded while patients had active disease [26]. Mean DLQI was 7 ± 6, with 24.7% having a moderate (DLQI 6-10) and 27.3% a severe (DLQI [11][12][13][14][15][16][17][18][19][20] or very severe impairment (DLQI 21-30) of QoL. In a separate sample of 25 patients with PPP, the DLQI was 9.2 ± 5.27, with a Palmoplantar Quality-of-Life Index (PPQOLI) of 29.04 ± 9.23, indicating a moderate impact of the disease on QoL [29,39].…”

“…Further, while mutations in the IL36-RN, AP1S3, and CARD14 genes have been reported in GPP, with some ethnic differences [7], IL36RN does not appear to play a significant role in either Asian or European PPP patients [8][9][10][11]. Mutations in the CARD14 gene have been described in PPP patients in Europe [8].…”