Genetic architecture of sarcoidosis




Principal Investigator:

Johan Grunewald


Karolinska Institutet

Start Date:


End Date:


Primary Classification:

30107: Medical Genetics


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  • Cygnus /proj at UPPMAX: 4000 GiB
  • Castor /proj/nobackup at UPPMAX: 1500 GiB
  • Cygnus /proj/nobackup at UPPMAX: 1500 GiB
  • Bianca at UPPMAX: 2 x 1000 core-h/month


Sarcoidosis is a systemic granulomatous and inflammatory disease of unknown etiology and pathogenesis. Ninety percent of patients are affected in the lungs or intrathoracic lymph nodes; however, other organs are often affected. Several features of sarcoidosis, such as the variability in the clinical presentation and the lack of case definitions of disease pose a challenge for diagnosis of the disease. Sarcoidosis is roughly as common in men as in women and has the tendency to present in the second or fourth decade of life. Sarcoidosis affects the life-style of young individuals. Evidence from genetic studies suggests that sarcoidosis disease architecture stems most likely from an immune-mediated disease structure. Although the mechanisms and molecular factors that play a role in disease pathogenesis are unknown, we hypothesize that many of these are attributed to the complexity of the genetic architecture of the disease itself. Our research aims focus on studying the genetic architecture of sarcoidosis and its phenotypes. Particularly, on genetic epidemiology of the disease thus to identify clinical biomarkers and discover pathogenic mechanisms involved in the disease.