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Table 1 Non-HLA genetic loci associated with giant cell arteritis

From: Giant cell arteritis: pathogenic mechanisms and new potential therapeutic targets

Non-HLA Locus Function
Sample size ≥ 1000a
 Plasminogen (PLG) [8] Lymphocyte recruitment, wound healing, fibrinolysis, angiogenesis
 Prolyl 4-hydroxylase subunit alpha 2 (P4HA2) [8] Collagen biosynthesis, folding of procollagen chains, hypoxia response
 Tyrosine phosphatase non-receptor type 22 (PTPN22) [102] Regulation of T and B cell receptor signaling
 Interleukin-12B [8] Th1 differentiation
 Interleukin-17A ([103]; [104]) Th17 lymphocyte differentiation and maintenance
 Interleukin-33 [105] Th2 lymphocyte and mast cell activation, endothelial cell activation
Sample size ≥ 500
 NLR family pyrin domain containing 1 (NLRP1) [106] Inflammasome assembly, activation of proinflammatory cytokines IL-1β, IL-18, IL-33
Sample size ≥ 250
 CC chemokine receptor 5 (CCR5) [107] Proinflammatory chemokine activating cellular chemotaxis of macrophages, T lymphocytes, dendritic cells
 Vascular endothelial growth factor (VEGF) ([108]; [109]; [110]) Neoangiogenesis, vascular remodeling
 Interleukin-6 ([110]; [111]; [112]) Pleotropic pro-inflammatory cytokine
Sample size < 250
 Endothelial nitric oxide synthase (eNOS) ([113]; [114]) Synthesis of nitric oxide; regulation of endothelial cell vascular tone, cellular proliferation, platelet aggregation, and leukocyte adhesion
 Tumor necrosis factor-a2 (TNFa2) [115] Pleotropic pro-inflammatory cytokine
 Interleukin-10 [116] Regulation of Th1 and Th2 immunity, skews immune response to Th2 phenotype by inhibition of IL-12 production
 Interleukin-18 [117] Th1 differentiation
  1. aIf more than one study listed, then the sample size refers to the combined total of patients evaluated