ABSTRACT
There is considerable epidemiological evidence to support
the existence of a genetic predisposition to sarcoidosis
(McGrath et al. 2001a; Grunewald 2008). For instance, the
prevalence, incidence and severity of the disease vary widely
between different races. However, sarcoidosis is not due to
defects in a single major gene or chemical pathway but
instead appears to be a complex/multifactorial disease likely
to result from the interaction of environmental factors and
multiple genes, some with a major disease effect but many
with a relatively minor effect. Genetic factors are also likely to
contribute to the wide variety of clinical presentations,
progression as well as prognosis observed in sarcoidosis.
Indeed, some believe that sarcoidosis may represent a ‘family’
of diseases, including Lo¨fgren’s syndrome, non-resolving/
progressive lung disease, and granulomatous uveitis each with potentially distinct genetic associations. In this respect,
berylliosis could also be considered as a subset of the broad
grouping ‘sarcoidosis’ and almost certainly was historically
(Grutters et al. 2003a).
