HLA Immune Function Genes in Autism

Table 3

Non-classical HLA genes associated with autoimmune diseases.

	Gene	HGNC gene number	Autoimmune disease	References
Extended class I	OR2H2	8253	SLE	[104]
Class I	RNF39	18064	Behçet’s disease	[105]
	TRIM39	10065	Behçet’s disease	[105]
	PSORS1 locus	9573	Systemic sclerosis, Psoriasis	[106–111]
	MICA	7090	T1DM, AD, SLE	[112–114]
	MICB	7091	SLE	[104]
Class III	BAT1–BAT5	13917–21	Alzheimer’s, AIDS	[115, 116]
	NFKBIL1	7800	Sjögren’s syndrome, SLE, RA	[117, 118]
	TNF Block	11892	Alzheimer’s, Psoriasis, Autoimmune hepatitis, Sarcoidosis	[115, 119–121]
	AIF1	352	T1DM	[122]
	HSP70 genes	5232–4	MS	[123]
	Complement genes	1248, 1324, 1323	SLE, myasthenia gravis, T1DM	[124–126]
	SKIV2L	10898	SLE	[127]
	ATF6B (CREBL1)	2349	SLE	[104]
	NOTCH4	7884	Systemic sclerosis	[128]
	C6orf10	13922	SLE	[104]
	BTNL2	1142	Ulcerative colitis, Sarcoidosis	[129, 130]
Class II	TAP2	44	Psoriasis	[131]
	PSMB8	9545	Hypersensitivity pneumonitis	[132]
			Psoriasis	[133]
	TAP1	43	Vitiligo	[134]
	PSMB9	9546	Psoriasis, Vitiligo	[133, 134]
	HLA-DM	4934, 4935	Psoriasis, Antiphospholipid auto-antibodies, RA, SLE, T1DM	[131, 135–138]
	HLA-DO	4936, 4937	common variable immunodeficiency	[139]
Class II Extended	HSD17B8	3554	SLE	[104]
	DAXX	2681	MS	[140]

Abbreviations: (HGNC) HUGO Gene Nomenclature Committee (http://www.genenames.org/); (SLE) systemic lupus erythematosus; (AIDS) acquired immune deficiency syndrome; (T1DM) type 1 diabetes mellitus; (AD) Addison’s disease; (RA) rheumatoid arthritis; (MS) multiple sclerosis, PSORS1 psoriasis locus genes (CDSN, PSORS1C1, PSORS1C2, CCHCR1, POU5F1, PSORS1C3), TNF Block genes (LTA, TNF, LTB, LST1), HSP70 genes (HSPA1L, HSPA1A, HSPA1B), Complement genes (C2, C4B, C4A).