Table 2.

Genes involved in the development of dyslipidemias.

Gene	Locus	Phenotype
PCSK9	1p32	related to autosomal dominant HAD and elevation of blood cholesterol levels
APOB	2p24-23	increase in blood cholesterol
LDLRAP1/ARH	1p36-35	related to autosomal recessive HAR and accumulation of LDL receptor in cell membranes
APOE	19q13.32	associated with hyperlipoproteinemia type 3, Alzheimer’s disease, lipoproteic glomerulopathy and familial hypercholesterolemia
LDLr	19p13.1-13.3	associated with familial hypercholesterolemia
ABCG5 and ABCG8	2p21	both genes are related to the appearance of sitosterolemia

HAD: dominant hypercholesterolemia; HAR: recessive hypercholesterolemia; LDL: low-density lipoprotein.