{"title":"肌炎的遗传学-不同亚型的背景。","authors":"Akinori Uruha","doi":"10.1038/s10038-025-01374-6","DOIUrl":null,"url":null,"abstract":"<p><p>Myositis is a heterogeneous group of inflammatory muscular disorders. Although the main etiology is autoimmune chronic inflammation, the underlying pathomechanism remains unclear. Advances in genetic technology have provided important insights into its complex pathophysiology. Large genetic studies on myositis have advocated a relationship with several HLA loci and possible disease susceptibility genes in non-HLA genes. Idiopathic inflammatory myopathy, or autoimmune myositis, was originally divided into polymyositis and dermatomyositis. However, this classification has recently been revised based on updated information on the pathophysiology of autoimmune myositis. Autoimmune myositis is currently understood to include at least four major clinicopathologically distinct entities: dermatomyositis, antisynthetase syndrome, inclusion body myositis, and immune-mediated necrotizing myopathy. This review aims to consolidate knowledge of the genetics of myositis in order to meet the current classification and highlights key findings for a more detailed understanding of the underlying pathomechanism.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.5000,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetics of myositis - distinct backgrounds of subtypes.\",\"authors\":\"Akinori Uruha\",\"doi\":\"10.1038/s10038-025-01374-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Myositis is a heterogeneous group of inflammatory muscular disorders. Although the main etiology is autoimmune chronic inflammation, the underlying pathomechanism remains unclear. Advances in genetic technology have provided important insights into its complex pathophysiology. Large genetic studies on myositis have advocated a relationship with several HLA loci and possible disease susceptibility genes in non-HLA genes. Idiopathic inflammatory myopathy, or autoimmune myositis, was originally divided into polymyositis and dermatomyositis. However, this classification has recently been revised based on updated information on the pathophysiology of autoimmune myositis. Autoimmune myositis is currently understood to include at least four major clinicopathologically distinct entities: dermatomyositis, antisynthetase syndrome, inclusion body myositis, and immune-mediated necrotizing myopathy. This review aims to consolidate knowledge of the genetics of myositis in order to meet the current classification and highlights key findings for a more detailed understanding of the underlying pathomechanism.</p>\",\"PeriodicalId\":16077,\"journal\":{\"name\":\"Journal of Human Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-07-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Human Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1038/s10038-025-01374-6\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1038/s10038-025-01374-6","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Genetics of myositis - distinct backgrounds of subtypes.
Myositis is a heterogeneous group of inflammatory muscular disorders. Although the main etiology is autoimmune chronic inflammation, the underlying pathomechanism remains unclear. Advances in genetic technology have provided important insights into its complex pathophysiology. Large genetic studies on myositis have advocated a relationship with several HLA loci and possible disease susceptibility genes in non-HLA genes. Idiopathic inflammatory myopathy, or autoimmune myositis, was originally divided into polymyositis and dermatomyositis. However, this classification has recently been revised based on updated information on the pathophysiology of autoimmune myositis. Autoimmune myositis is currently understood to include at least four major clinicopathologically distinct entities: dermatomyositis, antisynthetase syndrome, inclusion body myositis, and immune-mediated necrotizing myopathy. This review aims to consolidate knowledge of the genetics of myositis in order to meet the current classification and highlights key findings for a more detailed understanding of the underlying pathomechanism.
期刊介绍:
The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy.
Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.