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Exome-wide association study of plasma lipids in >300,000 individuals
Dajiang J Liu1, Gina M Peloso2,3, Haojie Yu4
1Department of Public Health Sciences, Institute of Personalized Medicine, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Nature Genetics
|October 31, 2017
Summary
This large-scale genetic study identified 444 variants linked to cholesterol and triglycerides. Certain genetic factors influencing lipid levels also impact risks for coronary artery disease and type 2 diabetes.
Area of Science:
- Genetics
- Cardiovascular Disease
- Metabolic Disorders
Background:
- Lipid levels are crucial determinants of cardiovascular health.
- Genetic factors play a significant role in regulating lipid metabolism.
- Understanding genetic associations with lipids can reveal disease mechanisms.
Purpose of the Study:
- To identify genetic variants associated with lipid levels (total cholesterol, HDL-C, LDL-C, triglycerides).
- To explore the functional consequences of identified genetic loci.
- To investigate the relationship between lipid-associated genetics and other diseases like coronary artery disease and type 2 diabetes.
Main Methods:
- Exome-focused genotyping array screening in over 300,000 participants.
- Replication analysis in over 280,000 participants.
- Experimental analysis in mice for specific loci (JAK2, A1CF).
Main Results:
- Identified 444 independent variants in 250 loci associated with lipid levels.
- JAK2 and A1CF variants showed lipid changes in mice consistent with human data.
- Beta-thalassemia trait associated with lower TC and reduced coronary artery disease risk.
- TG-lowering alleles impacting hepatic production increased liver fat and T2D risk, while decreasing CAD risk.
- TG-lowering alleles impacting peripheral lipolysis decreased risks for T2D and CAD without affecting liver fat.
Conclusions:
- Genetic variants significantly influence lipid profiles and associated disease risks.
- Mechanisms of lipid lowering have differential effects on metabolic and cardiovascular outcomes.
- Genetic insights provide a deeper understanding of lipid metabolism and its clinical implications.
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