Table 4.

Summary of genes that have been shown to be related to increased risk of VKH disease

Gene	Subtype/polymorphism	References
Human leukocyte antigen (HLA)	HLA-DQ4	Islam et al. [[24]]
	HLA-DQw7	Zhang et al. [[25]]
	DR1	Weisz et el. [[30]]
	DR4	Islam et al. [[24]], Zhang et al. [[25]], Weisz et el. [[30]]
	DR53	Islam et al. [[24]]
Cytotoxic T-lymphocyte antigen 4 (CTLA-4)	G allele at SNP +49, CTLA-4 haplotype −1661A:−318C:+49G:CT60G	Du et al. [[53]]
Interleukin (IL) genes	IL-12B rs3212227 C allele	Li et al. [[67]]
	IL-17F rs763780 TT genotype	Shu et al. [[69]]
Killer cell immunoglobulin-like receptors (KIR) gene cluster	KIR2DS3, KIR gene cluster 3DS1-2DL5-2DS1-2DS5, KIR2DL2/2DL3+HLA-C1	Sheereen et al. [[79]]
Programmed cell death 1 (PDCD1)	PD-1.5 C allele	Meng et al. [[98]]
Protein tyrosine phosphatase non-receptor 22 (PTPN22)	rs2488457 CC genotype and C allele	Zhang et al. [[107]]
	rs2488457 GG genotype
Osteopontin (OPN)	rs4754 TT genotype	Chu et al. [[110]]
Tumor necrosis factor, alpha-induced protein 3 (TNFAIP3)	rs9494885 TC genotype and C allele	Li et al. [[118]]
Macrophage migration inhibitory factor (MIF)	rs755622 GG genotype and G allele, rs2096525 T allele, rs755622/rs2096525 CT haplotype	Zhang et al. [[128]]
Fibroblast growth factor receptor 1 oncogene partner (FGFR1OP)	rs2301436	Yi et al. [[160]]