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From genes to granulomas: the genetic blueprint of sarcoidosis
Martin Petrek1, Natalia V Rivera2
1Department of Pathological Physiology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czechia.
Abstract:
Sarcoidosis is a complex, polygenic, and multifactorial disease characterized by granulomas in affected organs, which are the hallmark of the condition. Genetic susceptibility, environmental influences, and lifestyle factors play key roles in its development. Although the exact molecular mechanisms are not yet fully understood, it is known that the immune system plays a role in mediating the disease. Additionally, sarcoidosis encompasses a group of disease entities (endophenotypes) whose clinical features and progression can be described to help improve understanding of their genetic architecture. In this work, we aim to review recent advances in the genetics and immunopathogenesis of sarcoidosis and explore future directions to improve clinical outcomes and achieve the goals of precision medicine.
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