Table 1.

Protein-altering variants associated with plasma lipids and risk of coronary artery disease

Gene	Protein altering variant(s)	Main plasma lipid alteration	Associated risk of coronary artery disease	Reference
LDLR	Multiple loss of function	Increased LDL cholesterol	Increased	[31]
PCSK9	p.R46L, p.Y142*, p.C697*	Reduced LDL cholesterol	Reduced	[4]
NPC1L1	Multiple loss of function	Reduced LDL cholesterol	Reduced	[20]
LPA	p.I1837M	Increased lipoprotein(a)	Increased	[43]
LPA	Multiple loss of function	Reduced lipoprotein(a)	Reduced	[44]
ASGR1	Multiple loss of function	Reduced non-HDL cholesterol	Reduced	[19]
APOA5	Multiple loss of function	Increased TRL	Increased	[31]
ANGPTL4	p.E40K, multiple loss of function	Reduced TRL	Reduced	[45]
APOC3	Multiple loss of function	Reduced TRL	Reduced	[29, 30]
LPL	p.D36N	Increased TRL	Increased	[45]
LPL	p.S447*	Reduced TRL	Reduced	[45]

LDL = low-density lipoprotein; HDL = high-density lipoprotein; TRL = triglyceride-rich lipoproteins