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Published on: September 20, 2024
Genetic predisposition to sarcoidosis
Shu-Yi Liao1, Tasha Fingerlin2, Lisa Maier1
1National 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.
Abstract:
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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