PCSK9
Proprotein convertase subtilisin/kexin type 9
Gene Number: 255738
Location: 1p32.3
Key Functions: LDL receptor regulation, cholesterol clearance, lipid metabolism, cardiovascular homeostasis, atheroprotection
PCSK9 (proprotein convertase subtilisin/kexin type 9) encodes a secreted serine protease that plays a central role in cholesterol regulation by controlling the number of low-density lipoprotein receptors (LDLR) on the surface of hepatocytes. By modulating LDL receptor availability, PCSK9 determines how effectively the liver can remove LDL cholesterol (LDL-C)—commonly known as “bad cholesterol”—from the circulation.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs11591147 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs11591147
GG – Typical PCSK9 function; standard LDL-C levels and heart disease risk (R).
GT – Loss-of-function allele (T), associated with approximately 2–3× reduced risk of heart disease (R).
TT – Rare homozygous; strong reduction in PCSK9 activity, significantly lower LDL-C and cardiovascular risk. (R; magnitude up to ~4.5× reduction in disease risk) (R).
Functional effect: The T allele disrupts PCSK9's degradation of LDL receptors, resulting in elevated LDL receptor availability, lower LDL-C, and strong protection against cardiovascular disease in multiple studies (R).
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