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)