Novel Genes for Dyslipidemias: Genome-Wide Association Studies
Much of our existing knowledge of lipoprotein metabolism has emerged from the identification of genes responsible for monogenic dyslipidemias; however, many patients with abnormal blood lipid concentrations likely have polygenic disease that reflects the actions of many genes in tandem. Here, we review recent progress in unraveling the genetic basis of polygenic dyslipidemias. Genome-wide association studies (GWAS) have identified several dozen novel genetic loci related to blood lipid concentrations. Functional exploration of these loci has revealed novel functions of the genes SORT1, TRIB1, and GALNT2 in lipoprotein metabolism. A key challenge now is to build on these preliminary studies and develop a molecular understanding of how the many novel GWAS loci contribute to dyslipidemias.
KeywordsGenetics Genomics Genome-wide association studies Lipids Lipoproteins
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