Liao Shu-Yi, Fingerlin Tasha, Maier Lisa
National Jewish Health, Department of Medicine, Denver, CO, USA; University of Colorado Anschutz Medical Campus, Department of Medicine, Aurora, CO, USA; Colorado School of Public Health, University of Colorado Denver - Anschutz Medical Campus, Aurora, CO, USA.
National Jewish Health, Department of Medicine, Denver, CO, USA; University of Colorado Anschutz Medical Campus, Department of Medicine, Aurora, CO, USA; Colorado School of Public Health, University of Colorado Denver - Anschutz Medical Campus, Aurora, CO, USA; National Jewish Health, Department of Immunology and Genomic Medicine, Denver, CO, USA.
J Autoimmun. 2024 Dec;149:103122. doi: 10.1016/j.jaut.2023.103122. Epub 2023 Oct 19.
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.
结节病是一种复杂的全身性疾病，基于不同的表型和自然史具有临床异质性。结节病的确切病因尚不清楚，但遗传易感性以及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（DNA）和转录组（RNA）研究进行了全面综述，包括既往研究和最新发现。在本综述中，我们对以下内容进行了评估：结节病易感性和表型中的基因变异、结节病中特定祖先和性别的基因变异、结节病与其他疾病之间共享的遗传结构，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，包括迫切需要纳入不同人群，并在结节病研究界对表型有一致的定义，以帮助推进遗传易感性在结节病疾病风险和表现中的应用。
