Journal
CURRENT ATHEROSCLEROSIS REPORTS
Volume 14, Issue 3, Pages 211-218Publisher
CURRENT MEDICINE GROUP
DOI: 10.1007/s11883-012-0248-x
Keywords
Sort1; Genome wide association study; Atherosclerotic cardiovascular disease; Low-density lipoprotein cholesterol; Lipid metabolism
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Elevated low-density lipoprotein cholesterol (LDL-C) is associated with increased risk of atherosclerotic cardiovascular disease (ASCVD) and myocardial infarction (MI). Much of the insight into LDL metabolism has been gained through the study of Mendelian disorders of lipid metabolism. Genome-wide associations studies (GWAS) are now being used to identify novel genes and loci that contribute to variations in LDL-C levels, and they have identified the gene as an important modulator of LDL-C levels and ASCVD risk. Mechanistic studies in mice and cell culture also suggest that the gene is an important regulator of lipoprotein metabolism; however, these studies disagree on the directionality of the effect of expression on plasma lipids and the mechanism for the lipid changes. Here we review the identification of the locus as a modulator of LDL-C levels and ASCVD risk and the first mechanistic studies that explore the role of Sortilin in lipid metabolism.
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