Key result
HDL cholesterol as a trait is genetically heterogeneous, involving up to 40 genes, with most variants inherited in an autosomal-dominant manner and only 3 known autosomal-recessive Mendelian disorders.
This review highlights the genetic heterogeneity of HDL cholesterol metabolism, identifying up to 40 involved genes and detailing the inheritance patterns of Mendelian HDL disorders.
Should not yet guide genetic testing for HDL disorders; leaves open functional validation of up to 40 loci.
High-density lipoproteins (HDLs) are a highly heterogeneous and dynamic group of the smallest and densest lipoproteins present in the circulation. This review provides the current molecular insight into HDL metabolism led by articles describing mutations in genes that have a large affect on HDL cholesterol levels through their roles in HDL and triglyceride metabolism. Using this information from both human and animal studies, it is discussed how HDL is produced, remodeled in the circulation, affected by factors that control the metabolism of triglyceride-rich lipoproteins, how it helps maintain cellular cholesterol homeostasis, and, finally, how it is catabolized. It can be concluded that HDL cholesterol as a trait is genetically heterogeneous, with as many as 40 genes involved. In most cases, only heterozygotes of gene variants are known, and HDL cholesterol as a trait is inherited in an autosomal-dominant manner. Only 3 Mendelian disorders of HDL metabolism are currently known, which are inherited in an autosomal-recessive mode.
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Oldoni et al. (2014) conducted a review in Mendelian disorders of HDL metabolism. Genetic mutations affecting HDL metabolism was evaluated. HDL cholesterol as a trait is genetically heterogeneous, involving up to 40 genes, with most variants inherited in an autosomal-dominant manner and only 3 known autosomal-recessive Mendelian disorders.
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