. Author manuscript; available in PMC: 2010 Feb 22.

Published in final edited form as: Nature. 2000 Sep 14;407(6801):233–241. doi: 10.1038/35025203

Table 3.

Common genetic variations contributing to CHD and its risk factors

Trait	Gene	Variation
LDL/VLDL	ApoE⁵	Three common missense alleles explain ~5% of variance in cholesterol levels

HDL levels	Hepatic lipase⁶⁵	Promoter polymorphism
	ApoAI-CIII-AIV cluster⁶⁵	Multiple polymorphisms
	Cholesteryl ester transfer protein⁵	Common null mutations (Japanese); missense polymorphisms
	Lipoprotein lipase⁶⁶	Missense polymorphisms

Lipoprotein(a)	Apolipoprotein(a)⁵⁹	Many alleles explain >90% variance

Homocysteine	Methylene tetrahydrofolate reductase⁵	Missense polymorphism

Coagulation	Fibrinogen B⁵	Promoter polymorphism
	Plasminogen activator inhibitor type 1⁵	Promoter polymorphism
	Factor VIII⁵	Missense polymorphism

Blood pressure	Angiotensinogen⁶⁰	Missense and promoter polymorphisms
	β₂-adrenergic receptor⁶⁰	Missense polymorphism
	Alpha-adducin⁶⁰	Missense polymorphism

CHD	Angiotensin-converting enzyme⁶⁷	Insertion–deletion polymorphism
	Serum paraoxonase¹³,¹⁴	Missense polymorphism affecting enzymatic activity
	Haemachromatosis- associated gene⁶⁸	Missense polymorphism
	Endothelial nitric oxide synthase⁶⁹	Missense polymorphism
	Factor XIII⁷⁰	Missense polymorphism

Only genes exhibiting evidence of linkage or association in two or more studies are cited.