Table 1

Genetic associations with sarcoidosis and its various phenotypes

GeneAssociationReferences
HLA alleles
 HLA-A3, -B7Risk factor for disease and associates with prolonged disease12 17
 HLA-A1, -B8Risk factor for disease and associates with arthritis and with good prognosis13–15 17
 HLA-DRB101Protective against disease26 37 82 83
  HLA-DRB103†Risk factor for disease and associates with acute onset, with Löfgren's syndrome and good prognosis14–17 31 84–88
 HLA-DRB104Protective against disease and associates with ocular sarcoidosis and Heerfordt's syndrome37 40 82 84 89
 HLA-DRB10803Risk factor for disease and associates with ocular sarcoidosis (shown for Japanese patients)37
 HLA-DRB111Risk factor for disease39 82
 HLA-DRB112Risk factor for disease37 39
 HLA-DRB114Risk factor for disease and associates with prolonged disease82 89
 HLA-DRB115‡Risk factor for disease and associates with prolonged disease39 87
Non-HLA genes
 BTNL2Risk factor for disease. Association with prolonged disease?48 50 51 57–59
 ANXA11Protective against disease60–64

  • This table only includes validated associations. HLA gene and non-HLA gene associations are shown separately.

  • †In strong LD with HLA-DQB10201.

  • ‡In strong LD with DQB10602.

  • HLA, human leucocyte antigen; LD, linkage disequilibrium.