Li Zhong-Tao, Wang Sheng
Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China.
Sichuan Da Xue Xue Bao Yi Xue Ban. 2018 Jul;49(4):582-586.
To detect interleukin-36-receptor antagonist gene in Han patients with generalized pustular psoriasis (GPP) alone in Sichuan region for the purpose of clarification of GPP pathogenesis.
Genomic DNA of GPP patients, psoriasis vulgaris (PV) patients and normal controls was extracted and subjected to PCR for the amplification of entire encoding and splice sites of gene followed by bidirectional sequencing. Differences in frequencies of variants between three groups were analyzed. The variant frequency between pediatric-onset GPP (PGPP) and adult-onset GPP (AGPP) was also compared.
Three variants (c.115+6T>C, c.140A>G, c.227C>T) were found in Han GPP patients from Sichuan. Among them, c.115+6T>C had the highest frequency. Compared with PV patients and normal controls, all the variants frequency had statistical significance (<0.05). There was no significant difference of variants frequency of between PGPP and AGPP group (>0.05).
may be the most common disease-causing gene in the patients with GPP alone in Han population from Sichuan region.
检测四川地区汉族泛发性脓疱型银屑病（GPP）患者白细胞介素-36受体拮抗剂基因，以阐明GPP的发病机制。
提取GPP患者、寻常型银屑病（PV）患者及正常对照的基因组DNA，进行PCR扩增该基因的完整编码区及剪接位点，随后进行双向测序。分析三组间变异频率的差异。同时比较儿童期发病的GPP（PGPP）和成人期发病的GPP（AGPP）的变异频率。
在四川汉族GPP患者中发现三个变异（c.115+6T>C、c.140A>G、c.227C>T）。其中，c.115+6T>C频率最高。与PV患者及正常对照相比，所有变异频率均有统计学意义（<0.05）。PGPP组与AGPP组变异频率无显著差异（>0.05）。
在四川地区汉族单纯GPP患者中可能是最常见的致病基因。
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