9p21 region — coronary artery disease risk
One copy of the 9p21 risk variant for coronary artery disease.
You have one copy of a DNA change in the 9p21 region that's linked to heart artery disease.
Modestly increased lifetime risk of coronary artery disease (roughly 20% above baseline per copy in European populations). The absolute effect is small relative to lifestyle and cholesterol management.
Your lifetime risk of heart artery disease is roughly 20% above average. The effect is small compared with lifestyle and cholesterol — those still matter much more.
What this means
The 9p21 region is the most-replicated common variant for coronary artery disease, identified in early GWAS work in 2007. It lies near genes controlling cell-cycle regulation. The effect per copy is real but modest, and standard risk factors (blood pressure, lipids, smoking, diabetes, family history) remain much stronger predictors. Where this matters: the GG genotype shifts your *prior* slightly, which can influence decisions about earlier screening or statin therapy when other risk factors are borderline.
The 9p21 region of chromosome 9 is the most-replicated common DNA change linked to heart artery disease, first picked up in big genetic studies back in 2007. It sits near genes that control how cells divide. Each copy nudges risk up a little, but the effect is small compared to the classic risk factors — blood pressure, cholesterol, smoking, diabetes, family history. Where this finding can tip the scales is when your other risk numbers are borderline: having two copies might be the small nudge that makes earlier screening or starting a statin worthwhile.
Caveats
- Effect is small relative to traditional risk factors.
- Not currently used in clinical risk calculators (e.g. ASCVD, QRISK).
- Most studied in European populations; effect size differs in other groups.