摘要
目的探讨与重型痤疮相关的基因通路。方法使用全基因组关联研究(GWAS)的芯片数据,包括1056例重型痤疮患者和1056例健康对照标本,每个标本检测900015个SNP位点。对重型痤疮进行基因通路(KEGG数据库定义)分析。采用超几何分布检验计算每条通路与重型痤疮的关系,使用错误发现率(FDR)对得到的结果进行多重检验校正,校正后P〈0.05视为通路与重型痤疮相关。结果统计分析发现12条基因与重度痤疮相关(P〈0.001),包括TMPRSSllE、DDB2、RICl、CLLUlOS、IL3、PLA2G4B、SLCl6A14、SOXl7、FAHD2A、ENTPD7、MRPL50、TXLNB。通路分析发现,5条通路与重型痤疮相关(校正后P〈0.05),包括催乳素信号通路、丙型肝炎、肾细胞癌、高亲和力IgE受体信号通路、酪氨酸代谢。结论本研究发现5条通路与重型痤疮相关,分别涉及人体的内分泌、免疫、代谢等过程。
Objective To investigate gene pathways associated with severe acne. Methods Kyoto encyclopedia of genes and genomes (KEGG)-based pathway analysis was conducted using the genome-wide association study (GWAS) data on 1 056 patients with severe ache and 1 056 healthy controls, and each testee was tested for 900 015 SNPs. A hypergeometric distribution test was used to analyze the relationship between each pathway and severe acne, and the false discovery rate (FDR) to correct for multiple testing. Any pathway with an adjusted P value of 〈 0.05 was considered to be associated with severe ache. Results Twelve genes were identified to be associated with severe acne (P 〈 O.OO1 ), including TMPRSS11E, DDB2, RIC1, CLLUIOS, IL3, PLA2G4B, SLC16A14, SOX17, FAHD2A, ENTPDT, MRPL50 and TXLNB. Pathway analysis revealed 5 pathways associated with severe aene (adjusted P 〈 0.05), including the prolactin signaling pathway, hepatitis C, renal cell carcinoma, high affinity receptor for immunoglobulin E (Fc epsilon RI) signaling pathway, and tyrosine metabolism. Conclusion The 5 identified pathways are associated with severe acne, which affect the endocrine, immune and metabolic processes in the human body.
作者
杨健康
冯家祺
张平
曹光琼
何黎
吴文娟
Yang Jiankang;Feng Jiaqi;Zhang Ping;Cao Guangqiong;He Li;Wu Wenjuan(School of Basic Medical Sciences,Dali University,Dali 671000,China;Department of Dermatology,First Affiliated Hospital of Kunming Medical University,Kunming 650000,Chin;Center of Health Checkup,First Affiliated Hospital of Kunming Medical University,Kunming 650000,Chin;Clinical Laboratory,Qujing First People's Hospital,Qufing 655000,Yunnan,China)
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2018年第9期658-661,共4页
Chinese Journal of Dermatology
基金
国家自然科学基金(81760565、81460469、U1402223、81360234)
云南省卫生科技计划项目(2016NS008)
大理大学博士科研启动基金(KYBS201603)
关键词
寻常痤疮
全基因组关联研究
通路分析
Acne vulgaris
Genome-wide association study
Pathway analysis