Common variant in Greenlanders impacts heart health

Description

Emil Jørsboe, PhD, will discuss his paper on an LDLR missense variant that poses a high risk of familial hypercholesterolemia in 30% of Greenlanders and that offers potential of early cardiovascular disease intervention and prevention.

Overview of Presentation

• A missense variant in the LDLR gene, common in Greenlanders (MAF = 16%), approximately one third of all Greenlanders are carriers
• Doing association studies we show how carriers have highly elevated levels of LDL cholesterol, around 50% of homozygous carriers have very high levels of LDL cholesterol above 4.9 mmol/L, which is the level used for familial hypercholesterolemia diagnosing
• Doing survival studies we show how carriers have an increased risk of developing ischemic heart disease
• LDL cholesterol has a burden effect over time similar to pack-years for smoking, therefore this should hopefully lead to early detection and intervention, hopefully preventing cardiovascular disease on a population scale