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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