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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