Skip to main content

Table 2 Vitiligo susceptible genetic variants

From: Exploring vitiligo susceptibility and management: a brief review

Gene Locus Protein Role
BACH2 6q15 BTB domain and CNC homolog 2 B cell regulator
BTNL2 6p21.32 Butyrophilin-like 2 T cell regulator
CASP7 10q25.3 Caspase 7 Apoptosis
CAT 11p13 Catalase Oxidative stress regulator
CCR6 6q27 C-C motif chemokine receptor 6 B cell, T cell and dendritic cell regulator
CD44 11p13 CD44 antigen T cell regulator
CD80 3q13.33 T-lymphocyte activation antigen CD80 T cell priming by B cells, T cells and dendritic cells
CLNK 4p16.1 Cytokine-dependent hematopoietic cell linker Positive regulator of mast cells
C1QTNF6 22q12.3 Complement C1q tumor necrosis factor-related protein 6 Immune response-induced apoptosis
CTLA4 2q33.2 Cytotoxic T-lymphocyte protein 4 T cell inhibition
CXCR5 11q23.3 C-X-C motif chemokine receptor 5 B cell activity
FGFR1OP 6q27 Fibroblast growth factor receptor 1 oncogene partner Cell growth and proliferation
FOXP3 Xp11.23 Forkhead box protein P1 T cell activity and development
GSTP1 11q13.2 Glutathione S-transferase Pi 1 Oxidative stress regulator
GZMB 14q12 Granzyme B Cytotoxic T lymphocyte-mediated death
HLA-A, HLA-B and HLA-C 6p22.1 Human leukocyte antigen A, B and C Peptide antigen presentation
HLA-DQB1 and HLA-DRB1 6p21.32 Human leukocyte antigen DQB1 and DRB1 Peptide antigen presentation
IFIH1 2q24.2 Interferon-induced helicase C domain containing
protein 1
Innate immune activity
IFNAR1 21q22.11 Interferon alpha and beta receptor subunit 1 T cell signaling
IKZF4 12q13.2 Zinc finger protein Eos T cell regulator
IL2RA 10p15.1 Interleukin-2 receptor subunit alpha Interleukin 2-dependent T cell activation
LTA 6p21.33 Lymphotoxin alpha Immune response-induced apoptosis
MC1R 16q24.3 Melanocortin 1 receptor Melanogenesis regulator
MTHFR 1p36.22 Methylenetetrahydrofolate reductase Oxidative stress regulator
NLRP1 17p13.2 NLR family pyrin domain containing 1 Innate immune
Activity
OCA2 15q12-13-1 P protein Melanosomal transporter
PMEL 12q13.2 Premelanosome protein Melanosomes regulator
PTPN22 1p13.2 Tyrosine-protein phosphatase non-receptor type 22 T cell signaling
RERE 1p36.23 Arginine-glutamic acid dipeptide repeats protein Lymphoid co-repressor
SH2B3 12q24.12 SH2B adaptor protein 3 T cell signaling
SLA 8q24.22 Src-like adaptor T cell signaling
SOD2 and SOD3 6q25.3, 4p15.2 Superoxide dismutase 2 and 3 Oxidative stress regulator
TICAM1 19p13.3 Toll-like receptor adaptor molecule 1 Innate immune activity
TLR2 and TLR4 4q31.3, 9q33.1 Toll-like receptor 2 and 4 Innate immune activity
TNF 6p21.33 Tumor necrosis factor Cell proliferation, differentiation and apoptosis
TYR 11q14.3 Tyrosinase Melanogenesis regulator
UBASH3A 21q22.3 Ubiquitin associated and SH3 domain containing A T cell signaling
ZMIM1 10q22.3 Zinc finger MIZ-type containing 1 Transcriptional co-activator