Common variant in Greenlanders impacts heart health

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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 

Emil Jørsboe

Postdoc

University of Oxford

Dr. Emil Jørsboe is currently a postdoc at the University of Oxford. He obtained his bachelor’s degree in Pharmacy and his master’s degree in Bioinformatics at the University of Copenhagen. He then moved on to do a PhD in Bioinformatics at the University of Copenhagen, working with the genetics of Greenlanders and also working with probabilistic methods for low depth sequencing data, publishing papers on both topics. Following his PhD degree, Emil chose to do a postdoc on applying visual deep learning methods to histology data. This project is a collaboration between the University of Copenhagen and the University of Oxford.


Contact Dr. Jørsboe:

Twitter: @jorsboe

Email: emil.joersboe@sund.ku.dk 

Jessica Chong, PhD (Moderator)

Deputy Editor

HGG Advances

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August Journal Club
08/03/2022 at 12:00 PM (EDT)   |  30 minutes
08/03/2022 at 12:00 PM (EDT)   |  30 minutes