Table 1.

A summary of genes associated with susceptibility to vitiligo

Type	Gene	Protein	Function	References
HLA	HLA–A	HLA class I histocompatibility antigen, A	Peptide antigen presentation to the immune system	[185, 193, 194]
	HLA-DRB1 and DQA1	HLA class II histocompatibility antigen, DRB1 and DQA1	Peptide antigen presentation to the immune system	[185, 195]
	HLA class III	HLA class III histocompatibility antigen	Involved in inflammation and cytokine production	[196]
Immune-regulatory	AIRE	Autoimmune regulator	Maintenance of immune tolerance	[197, 198]
	BACH2	Transcription regulator protein BACH2	B cell transcriptional repressor encodes a transcriptional repressor of B cells, which is a key regulator of CD4+ T-cell differentiation that prevents inflammatory disease by controlling the balance between tolerance and immunity	[191]
	C1QTNF6	Complement C1q tumour necrosis factor-related protein 6	Induces monocyte IL-10 expression	[185]
	CASP7	Caspase-7	Executor protein of apoptosis and inflammation	[191]
	CCR6	Chemokine-cytokine receptor 6	Regulates differentiation and function of B and T lymphocytes and dendritic cells	[185, 196]
	CD44	CD44 antigen	Involves in T-cell development	[191]
	CD80	Tlymphocyte activation antigen CD80	Co-stimulates activation of T cells	[191]
	CLNK	Cytokine-dependent hematopoietic cell linker	Positively regulates immune-receptor signalling	[191]
	CTLA4	Cytotoxic Tlymphocyte protein 4	Inhibition of T cells	[199–201]
	CXCR5	C-X-C chemokine receptor type 5	Involves in B lymphocyte migration	[192]
	FASLG	FAS ligand	Regulate immune apoptosis	[202]
	FOXP1	Forkhead box protein P1	Regulates B cell development	[203]
	FOXP3	Forkhead box protein P3	Regulates development and function of regulatory T cells	[85]
	GZMB	Granzyme B	Mediates the process of immune-induced cell death with contribution of cytotoxic T lymphocytes and natural killer cells	[185, 204]
	IFIH1	Interferon-induced helicase C domain 1	Regulates innate immune response	[191]
	IKZF4	Zinc finger protein Eos	Regulates T-cell activation	[191, 192]
	IL2RA	Interleukin2 receptor subunit alpha	Regulates regulatory T cells	[185, 192]
	NLRP1	NACHT leucine-rich-repeat protein 1	Regulates innate immune system	[45, 205–207]
	PTPN22	Lymphoid protein tyrosine phosphatase non-receptor type 22	Negative regulation of T-cell activation	[185, 208–213]
	SH2B3	SH2B adapter protein 3	Development of B and T lymphocytes	[191]
	SLA	Src-like-adapter	Regulates antigen receptor signalling	[191]
	TOB2	Protein TOB2	Involves in T-cell tolerance	[191]
	TSLP	Thymic stromal lymphopoietin	Cytokine regulator of maturation of skin dendritic cells and T cells	[85]
	UBASH3A	Ubiquitin-associated and SH3 domain–containing A protein	Suppresses T-cell receptor signalling	[185]
	XBP1	Xbox-binding protein 1	Regulator of major histocompatibility complex class II	[39, 85]
Melanocyte function	ASP	Agouti signalling protein	Melanogenesis regulator via MC1R	[214]
	FOXD3	Forkhead box D3	Regulator of melanoblast development	[215]
	MC1R	Melanocortin 1 receptor	Regulator of melanogenesis	[191, 214]
	OCA2	OCA2 gene	Melanosomal transporter	[191]
	PMEL	Melanocyte-specific protein PMEL	Structural organization of premelanosomes	[192]
	TYR	Tyrosinase	Regulator of melanogenesis	[185, 216]
	ZMIZ1	Zinc finger protein MIZ type 1	Regulates development, function and survival of melanocytes	[196, 217]
Metabolism-related genes	ACE	Angiotensin-converting enzyme	Regulator of inflammation and blood pressure	[218]
	CAT	Catalase	Protects cells from oxidative stress by breakdown of hydrogen peroxide	[219–221]
	EDN-1	Endothelin-1	Regulator of melanocyte growth and function	[222]
	LPP	Lipoma-preferred partner	Potential coactivator	[185]
	RERE	Arginine–glutamic acid dipeptide repeats protein	Regulates cell apoptosis	[185]
	RNASET2	Ribonuclease T2	Oxidative stress regulator	[196]