Genetics of Proteasome Diseases

Table 2

Polymorphisms in proteasome genes associated with human diseases.

Gene	Polymorphism	Amino acid change	Disease	References
20S subunits
PSMA6	−8C>G (rs1048990)	—	Myocardial infarction	[60, 72, 73]
			Type 2 diabetes	[74, 75]
			Ischemic stroke	[72]
			Coronary artery disease	[60]
PSMA7	335C>A	A112D	Intellectual disability	[45]
19S subunits
PSMD3	SNPs rs4065321 and rs709592	—	Diabetes	[76]
PSMD7	SNP, rs17336700 in intron 3	—	Ankylosing spondylitis	[18]
Immunoproteasome subunits
PSMB8	c.224C>T	T75M	JMP syndrome	[54]
		G210V	Nakajo-Nishimura syndrome	[57]
	c.224C>T, c.405C>A	T75M	CANDLE syndrome	[77]
		Q145K	M. tuberculosis infection	[78]
	LMP-K/Q	—	Cancer	[79]
	LMP-Q/Q	—	Ankylosing spondylitis	[80]
	G/T-37360	—	Type 1 diabetes mellitus	[81]
PSMB9	HLA-B27	—	Graves’ disease	[82]
	179G>A	R60H	Ankylosing spondylitis	[83]

Table shows only disease-associated polymorphisms for which the SNP or amino acid change is known.