Table 1.
Non-HLA genetic loci associated with giant cell arteritis
| 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 |
aIf more than one study listed, then the sample size refers to the combined total of patients evaluated