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. Author manuscript; available in PMC: 2016 Nov 1.
Published in final edited form as: J Autoimmun. 2015 Jul 30;64:82–90. doi: 10.1016/j.jaut.2015.07.009

Table 1.

Summary of major susceptibility genes for AITD and their point of action in the immunoregulatory pathway (central tolerance vs peripheral tolerance vs co-stimulatory signals for proper antigen presentation), chromosomal location, and associated autoimmune diseases (may vary by ethnicity; see references).

Pathway/ Mechanism GenGene Chromosome Associated Autoimmune Diseases Ref.
Central Tolerance TSHR 14q31 GD [16, 17]
Peripheral Tolerance FOXP3 Xp11 GD, HT
IPEX
T1D
RA
PBC
Psoriasis, Vitiligo
Autoimmune Hemolytic Anemia
Autoimmune Cytopenia
Autoimmune Hepatitis
[33, 34, 36, 37, 40]
Peripheral Tolerance IL-2Rα/ CD25 10p15 GD
T1D
MS
[41, 45]
Co-stimulation (APC and T cell activation) CD40 20q11 GD
SLE
RA
MS
Behcet's disease
IBD
[50, 55-58, 66-68, 113]
Co-stimulation (T cell activation) CTLA-4 2q33 GD, HT
T1D
Autoimmune Addison's
Disease
SLE
RA
MS
PBC
IBD
Celiac disease
Sjogren's disease
Systemic sclerosis
Myasthenia gravis
[86, 114-120]
Co-stimulation (T cell activation) PTPN22/LYP 1p13 GD, HT
T1D
SLE
RA
[121-124]
Co-stimulation (B Cell Activation) FCRL3 1q21-22 GD, HT
SLE
RA
MS
Behcet's disease
NMO
[125-128]
Antigen Presentation (T cell activation) HLA 6p21 GD, HT
T1D
SLE
RA
MS
Celiac disease
Behcet's disease
Myasthenia gravis
[129, 130]*
*

see references for complete list of HLA-associated autoimmune diseases

Abbreviations: TSHR (thyrotropin receptor), FOXP3 (forkhead box P3), CTLA-4 (cytotoxic T-lymphocyte-associated molecule-4), PTPN22 (protein tyrosine phosphatase nonreceptor type-22), LYP (lymphoid tyrosine phosphatase), FCRL3(Fc receptor-like 3), Graves' disease (GD), Hashimoto's thyroiditis (HT), immune dysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX), type I diabetes mellitus (T1D), rheumatoid arthritis (RA), primary biliary cirrhosis (PBC), systemic lupus erythematosus (SLE), multiple sclerosis (MS), inflammatory bowel disease (IBD), neuromyelitis optica (NMO)