Those with DNA mutations inactivating APOB or PCSK9 genes have ⬇️ LDL-C and protection from🫀
disease.

We identify 801 carriers and observe

stable LDL-C reductions of ~47 mg/dL, corresponding to a 49% ⬇️🫀disease risk.

Details in @JamaCardio! jamanetwork.com/journals/jamac…

1/10🧵 2/10

In 2006, Cohen et al. reported PCSK9 mutations in Black individuals associated with an 89% ⬇️🫀disease risk, but this was based on only 1 event in carriers, resulting in a 95% CI ranging from 19 to 98%.

As an update from this work and other seminal observations…