Why some people have super low bad cholesterol
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Surprising Findings
Two loss-of-function mutations in PCSK9 are relatively common in African Americans (2%) but extremely rare in European Americans (<0.1%).
It was previously less known that such impactful cholesterol-lowering mutations are concentrated in specific populations—challenging assumptions that protective variants are evenly distributed.
Practical Takeaways
People with a family history of low cholesterol or early heart disease protection might benefit from genetic testing for PCSK9 mutations.
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Surprising Findings
Two loss-of-function mutations in PCSK9 are relatively common in African Americans (2%) but extremely rare in European Americans (<0.1%).
It was previously less known that such impactful cholesterol-lowering mutations are concentrated in specific populations—challenging assumptions that protective variants are evenly distributed.
Practical Takeaways
People with a family history of low cholesterol or early heart disease protection might benefit from genetic testing for PCSK9 mutations.
Publication
Journal
Nature Genetics
Year
2005
Authors
J. Cohen, A. Pertsemlidis, I. Kotowski, R. Graham, C. Garcia, H. Hobbs
Related Content
Claims (4)
People with certain genetic changes that turn down a protein called PCSK9 tend to have lower 'bad' cholesterol their whole lives and are much less likely to get heart disease.
Some people of African descent have genetic changes in a gene called PCSK9 that seem to cut bad cholesterol levels by almost half—this might help explain why they have lower heart disease risk.
Two specific genetic changes that can affect heart health are much more common in African Americans than in white Americans.
Some people of African descent have natural changes in a gene called PCSK9 that seem to lower their cholesterol levels a lot.