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遗传过渡性疾病:对类风湿性疾病的概念理解和适用性
Timothy B Niewold1, Ivona Aksentijevich2, Peter D Gorevic3
1Department of Rheumatology, Hospital for Special Surgery, New York, NY, USA.
Nature reviews. Rheumatology
|February 28, 2024
概括
遗传过渡性疾病 (GTD) 发生在基因突变是必要的,但不足以引起疾病时. 这一概念应用于类风湿性疾病,将许多自身免疫和自身炎症性疾病重新归类为GTD.
科学领域:
- 基因组医学是一种基因组医学.
- 类风湿性疾病 类风湿性疾病
- 遗传易感性 遗传易感性
背景情况:
- 风湿性疾病与众多的遗传变异有关,它们位于单基因和常见易感性等位基因之间.
- 自发炎性疾病基因的低频率和低透率变异增加了全身炎症风险.
- 数以百计的HLA和非HLA变体是自身免疫性疾病中适度至中度风险的等位基因.
结论:
- 将类风湿性疾病重新归类为GTD可以提高基因测试解释和诊断产量.
- GTD概念为遗传咨询,治疗选择和人类遗传疾病研究提供了一种新的方法.
- 这一框架在风湿病学之外的广泛的人类疾病中具有潜在的应用.
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