The Study
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
This study looked at people who already had low cholesterol and checked their genes. It found that some of them had a broken PCSK9 gene, and those people tended to have even lower cholesterol. But because the study didn’t change anything or follow people over time, we can’t say for sure that the broken gene caused the low cholesterol — it just shows a link.
Analysis score
Maximum 44 for a cross-sectional study.
Where the score came from
Some people have spelling mistakes in a gene called PCSK9 that makes their body clean out bad cholesterol better.
Where does this study sit?
Reviews of RCTs (Meta-analyses)
Max 100Randomized Trials
Max 90Reviews of Cohort Studies
Max 85Cohort Studies
Max 72Reviews of Case-Control Studies
Max 63Case-Control Studies
Max 58Cross-Sectional & Case Series
Max 50Expert Opinion
Max 532 / 100
Quality score
Snapshots of a population at a single point in time, or descriptions of small groups. Can identify correlations and prevalence, but cannot determine cause and effect.
Key takeaways
Summary
Based on the study abstract and findings.
- 1Yes, having much lower LDL cholesterol from a young age can greatly reduce the chance of heart disease.
- 2People with the Y142X or C679X gene changes had 40% lower LDL cholesterol.
- 3About 2 in 100 African Americans have one of these changes, but they are very rare in European Americans.
Score breakdown, methodology, conflicts of interest, evidence analysis & raw study data
Publication
Journal
Nature Genetics
Year
2005
Authors
J. Cohen, A. Pertsemlidis, I. Kotowski, R. Graham, C. Garcia, H. Hobbs
Related Content
Claims (5)
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.
Loss-of-function mutations in the PCSK9 gene are associated with lifelong lower LDL cholesterol and a substantially reduced risk of coronary 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.
Not medical advice. For informational purposes only. Always consult a qualified healthcare professional before making health decisions.