Sarcoidosis is a systemic granulomatous disorder most commonly affecting the lung. While we do not know its cause/s, there is compelling evidence that a genetic predisposition to developing the disease exists. However, sarcoidosis is not a single-gene disorder; instead, it is likely to result from a complex interplay of multiple genes and environmental factors. The host genetic profile is also likely to account for the wide variety of observed clinical manifestations, outcomes, and response to treatment.
The aim of this review is to discuss recent advances in genetics of sarcoidosis – with emphasis on recently performed genome-wide association studies – as well as practical issues and implications for both patients and physicians of such progress. (By Dr. Paolo Spagnolo, http://jmg.bmj.com/content/early/2013/03/21/jmedgenet-2013-101532 )