结节病的遗传易感性。

IF 7.9 1区医学 Q1 IMMUNOLOGY

Journal of autoimmunity Pub Date : 2024-12-01 DOI:10.1016/j.jaut.2023.103122

Shu-Yi Liao , Tasha Fingerlin , Lisa Maier

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引用次数: 0

摘要

结节病是一种复杂的系统性疾病，其临床异质性基于不同的表型和自然史。结节病的详细病因尚不清楚，但遗传易感性和环境暴露在疾病发病机制中起着重要作用。我们对结节病的种系遗传学（DNA）和转录组学（RNA）研究进行了全面综述，包括以前的研究和最近的发现。在这篇综述中，我们对以下方面进行了评估：结节病易感性和表型的遗传变异，结节病的祖先和性别特异性遗传变异，结节病和其他疾病之间的共享遗传结构，以及结节病中的基因-环境相互作用。我们还强调了结节病遗传研究中未满足的需求，包括迫切需要包括不同的人群，并在结节病研究界对表型有一致的定义，以帮助推进结节病疾病风险和表现的遗传易感性的应用。

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Genetic predisposition to sarcoidosis

Sarcoidosis is a complex systemic disease with clinical heterogeneity based on varying phenotypes and natural history. The detailed etiology of sarcoidosis remains unknown, but genetic predisposition as well as environmental exposures play a significant role in disease pathogenesis. We performed a comprehensive review of germline genetic (DNA) and transcriptomic (RNA) studies of sarcoidosis, including both previous studies and more recent findings. In this review, we provide an assessment of the following: genetic variants in sarcoidosis susceptibility and phenotypes, ancestry- and sex-specific genetic variants in sarcoidosis, shared genetic architecture between sarcoidosis and other diseases, and gene-environment interactions in sarcoidosis. We also highlight the unmet needs in sarcoidosis genetic studies, including the pressing requirement to include diverse populations and have consistent definitions of phenotypes in the sarcoidosis research community to help advance the application of genetic predisposition to sarcoidosis disease risk and manifestations.

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来源期刊

Journal of autoimmunity 医学-免疫学

CiteScore

27.90

自引率

1.60%

发文量

117

审稿时长

17 days

期刊介绍： The Journal of Autoimmunity serves as the primary publication for research on various facets of autoimmunity. These include topics such as the mechanism of self-recognition, regulation of autoimmune responses, experimental autoimmune diseases, diagnostic tests for autoantibodies, as well as the epidemiology, pathophysiology, and treatment of autoimmune diseases. While the journal covers a wide range of subjects, it emphasizes papers exploring the genetic, molecular biology, and cellular aspects of the field. The Journal of Translational Autoimmunity, on the other hand, is a subsidiary journal of the Journal of Autoimmunity. It focuses specifically on translating scientific discoveries in autoimmunity into clinical applications and practical solutions. By highlighting research that bridges the gap between basic science and clinical practice, the Journal of Translational Autoimmunity aims to advance the understanding and treatment of autoimmune diseases.