Genetics of neurosarcoidosis

J Neuroimmunol. 2022 Nov 15:372:577957. doi: 10.1016/j.jneuroim.2022.577957. Epub 2022 Aug 29.

Abstract

Sarcoidosis is a systemic, inflammatory, granulomatous disease characterized by great variability in organ involvement, clinical course, and severity. While pulmonary manifestations are almost universal, the central and peripheral nervous systems can also be affected. Neurosarcoidosis occurs in ∼5-15% of cases and is among the manifestations with the highest morbidity and mortality. It is known that sarcoidosis has genetic underpinnings and while multiple studies aimed at identifying associations to sarcoidosis susceptibility and prognosis, very few studies have focused on neurosarcoidosis. This review summarizes the genetic studies to date, compares and contrasts those findings with other genetic effects in sarcoidosis, and offers ideas for moving the field forward.

Keywords: Genetic association; HLA-DRB1; Neurosarcoidosis; Zinc-Finger proteins.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Central Nervous System Diseases* / genetics
  • Granuloma
  • Humans
  • Prognosis
  • Sarcoidosis* / genetics

Supplementary concepts

  • Neurosarcoidosis