Table 3.

Genetics of autoimmune diseases

Diseases	Genes	Chro.	Influences	Ref.
SLE	FCGRs	1q23.3	Contributes to the incomplete clearance of immune complexes	60
	PTPN22	1p 13.3–13.1	Increases the formation and deposition of immune complexes	61
	IL10	1q 31–32	Suppresses expression of proinflammatory cytokines	62, 63
	C1Q	4 D3	Associated with neuropsychiatric SLE	64
	TNFα	6p 21.33	Regulates inflammation and apoptosis	65
	TNFβ	6	Represents a risk factor in Korean SLE and nephritis in patients with SLE	66
	PDCD1	2q 37.3	Affects the binding affinity and activity of NFkB and RUNX1	64
	CTLA4	2 q33	Mediates antigen-specific apoptosis of T cells and suppresses autoreactive proliferation of T lymphocytes	67, 68
RA	PTPN22	1p 13.3–13.1	Enhances neutrophil effector functions	69
	IL23R	1p31.3	Over-expression in the synovial fibroblasts and plasma	70
	TRAF1	9q33.2	Negatively regulates Toll-like receptor signaling	71
	CTLA4	2q33.2	Contributes to susceptibility	72
	IRF5	7q32.1	Mediates proinflammatory cytokine production	73
	STAT4	2q32	Overexpression in peripheral blood leukocytes and synovial fluid cells	74
	CCR6	6q27	Mutations in CCR6 result in either a gain or loss of receptor function	75
	PADI4	1p36.13	Protects fibroblast-like synoviocytes from apoptosis	76
T1D	CTLA4	2 q33	Involved in immune tolerance	77
	PTPN22	1p 13.3–13.1	Modulates intracellular signaling	78
	IL2RA	10p15.1	Involved in Treg cell suppressive function	48
	CLEC16A	16p13.13	Protective factor of T1D	48
	STAT4	2q32	Influences cytokine signaling	49
PBC	IL12A	3q25.33	Contributes to susceptibility	79
	IL12RB2	1p31.3	Contributes to susceptibility	79
	STAT4	2q32	Contributes to susceptibility and ANA status in the Japanese population	54
	DENND1B	1q31	Contributes to susceptibility	80
	CD80	3q13	Contributes to susceptibility	81
	IL7R	5p13	Contributes to susceptibility	81
	CXCR5	11q23	Contributes to susceptibility	82
	TNFRSF1A	12p13	Contributes to susceptibility	82
	CLEC16A	16q24	Contributes to T cell hyporeactivity	83
	NFKB1	4q24	Contributes to susceptibility	82