APOB R3527Q — familial defective apolipoprotein B
One copy of the APOB R3527Q variant — familial defective apolipoprotein B.
You have one copy of the APOB R3527Q DNA change — a known inherited cause of high cholesterol.
Associated with lifelong elevated LDL cholesterol and substantially increased lifetime risk of premature coronary artery disease. Highly responsive to statin therapy.
This means you've had higher LDL ("bad") cholesterol since birth and a substantially raised risk of early heart artery disease. The good news is that statins work very well for this.
What this means
Familial defective apolipoprotein B-100 (FDB) is one of two common monogenic causes of severely elevated LDL cholesterol (the other being LDL receptor mutations). It impairs the LDL particle's ability to bind and clear via the LDL receptor. Identifying it changes risk stratification meaningfully: people with FDB typically benefit substantially from early and aggressive statin therapy. Cascade testing of first-degree relatives is appropriate.
Familial defective apolipoprotein B is one of the two common inherited causes of severely high "bad" cholesterol. Apolipoprotein B is the protein that makes up the outside of an LDL cholesterol particle, and this DNA change weakens the part that lets your liver grab and clear LDL from your blood. So LDL stays in circulation longer and builds up. Spotting this finding is genuinely useful — it usually means starting cholesterol-lowering treatment early pays off, and it's worth telling close relatives, who may share the same change.
Caveats
- Confirm with a clinical lipid panel — an actual LDL value gives a clearer picture.
- Family members may share the variant and benefit from cascade testing.
- This is one of the more actionable findings in consumer genomics; consider sharing with your GP.