中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (4): 245-249.doi: 10.12144/zgmfskin202404245

• 论著 • 上一篇    下一篇

MAP3K7、MPO基因与中国人群坏疽性脓皮病发病的相关性研究

靳传洋1，2,王真真1，2,孙乐乐1，2,刘亭亭1，2,刘红1，2,张福仁1，2   

  1. 1山东第一医科大学附属皮肤病医院，山东济南，250022；2 山东省皮肤病性病防治研究所，山东济南，250022
  • 出版日期:2024-04-15 发布日期:2024-03-26

Correlation between MAP3K7 and MPO genes and pyoderma gangrenosum in Chinese population

JIN Chuanyang1，2, WANG Zhenzhen1，2, SUN Lele1，2, LIU Tingting1，2, LIU Hong1，2, ZHANG Furen1，2   

  1. 1 Hospital for Skin Diseases, Shandong First Medical University, Jinan 250022, China; 2 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan 250022, China
  • Online:2024-04-15 Published:2024-03-26

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摘要： 目的：对中国人群坏疽性脓皮病患者进行基因检测，明确相关突变。方法：收集坏疽性脓皮病患者外周血，提取DNA并进行目标基因二代测序，使用样本库中对照样本全外显子数据进行基因负荷检验，并对可能与坏疽性脓皮病发病相关的突变位点使用Sanger测序验证。结果：共收集36例坏疽性脓皮病患者，在4例患者的5个基因中发现了6个有害性突变位点。包括一个移码突变： NLRP12: c.908delT(p.F303fs)和5个错义突变：MAP3K7: c.815C>G(p.S272C), MPO: c.1484C>T(p.T495I), MPO: c.1705C>T(p.R569W), NOD2: c.2975G>A(p.R992Q), SYK: c.389A>G(p.E130G)。其中〖STBX〗MAP3K7的杂合突变和MPO的纯合（复合杂合）突变仅存在于病例组。结论：本研究发现了〖STBX〗MAP3K7（P=7.44E-02），MPO（P=7.44E-02）有害性突变可能与中国人群的坏疽性脓皮病相关。

关键词: 坏疽性脓皮病, 二代测序, 基因突变

Abstract: Objective: To detect the mutant gene of pyoderma gangrenosum(PG) in the next generation target area and explore the genetic background of PG. Methods: We collected the peripheral blood of patients with pyoderma gangrenosum and extracted DNA. The target genes were sequenced by the next-generation sequencing, and the gene-based burden test was carried out by using the whole exome sequencing data of the controls in our data library. The mutations may be related to pyoderma gangrenosum were verified by Sanger sequencing. Results: A total of 36 patients with pyoderma gangrenosum were collected，and  6 damaging mutations in 5 genes of 4 patients were found, including one frame shift mutation: NLRP12: c.908delT(p.F303fs) and five missence mutations: MAP3K7: c.815C>G(p.S272C), MPO: c.1484C>T(p.T495I), MPO: c.1705C>T(p.R569W), NOD2: c.2975G>A(p.R992Q), SYK: c.389A>G(p.E130G). The heterozygous mutation of MAP3K7 and the homozygous (compound heterozygous) mutation of MPO only exist in the patients. Conclusion: The damage mutation of MAP3K7 (P=7.44E-02) and MPO(P=7.44E-02) may be related to pyoderma gangrenosum in Chinese population.

Key words: pyoderma gangrenosum, next generation sequencing, gene mutation