肌炎的遗传学-不同亚型的背景。

IF 2.5 3区 生物学 Q2 GENETICS & HEREDITY
Akinori Uruha
{"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}
引用次数: 0

摘要

肌炎是一种异质性的炎性肌肉疾病。虽然主要病因是自身免疫性慢性炎症,但其潜在的病理机制尚不清楚。遗传技术的进步为其复杂的病理生理学提供了重要的见解。对肌炎的大量遗传研究表明,肌炎与非HLA基因中的几个HLA位点和可能的疾病易感基因有关。特发性炎性肌病,或自身免疫性肌炎,最初分为多发性肌炎和皮肌炎。然而,基于自身免疫性肌炎病理生理学的最新信息,最近对这种分类进行了修订。目前认为自身免疫性肌炎包括至少四种不同的临床病理实体:皮肌炎、抗合成酶综合征、包涵体肌炎和免疫介导的坏死性肌病。这篇综述旨在巩固肌炎的遗传学知识,以满足目前的分类,并强调了更详细地了解潜在病理机制的关键发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of Human Genetics
Journal of Human Genetics 生物-遗传学
CiteScore
7.20
自引率
0.00%
发文量
101
审稿时长
4-8 weeks
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信