Table 1.
Nucleotide change | rs number | Amino acid change | In vitro function | In vivo function | Caucasians | African‐Americans | Asians |
---|---|---|---|---|---|---|---|
c.217T>C | rs56101265 | p.F73L | Decreased | 0–2 | 0 | 0 | |
c.245T>C | rs56061388 | p.V82A | Decreased | 0–2 | 0 | 0 | |
c.388A>G | rs2306283 | p.N130D | Increased or unchanged | Decreased AUC pravastatin, atorvastatin | 30–45 | 72–83 | 59–86 |
Increased AUC pitavastatin | |||||||
c.452A>G | rs2306282 | p.N151S | 0–3 | 0–2 | 0–4 | ||
c.463C>A | rs11045819 | p.P155T | Unchanged | 13–23 | 2–10 | 0–3 | |
c.467A>G | rs72559745 | p.E156G | Decreased | 0–2 | 0 | 0 | |
c.521T>C | rs4149056 | p.V174A | Decreased | Increased AUC statins | 8–20 | 1–8 | 8–16 |
Increased risk statin‐induced myopathy | |||||||
Decreased lipid lowering efficacy | |||||||
c.578T>G | rs72559746 | p.L193R | Decreased | <0.3 | |||
c.733A>G | rs11045852 | p.I245V | 0 | 0–7 | 0 | ||
c.1007C>G | rs72559747 | p.P336R | Unchanged | 0 | 1 | ||
c.1058T>C | rs55901008 | p.I353T | Decreased | 0–2 | 0 | 0 | |
c.1200C>G | rs59113707 | p.F400L | 0 | 2 | 0 | ||
c.1294A>G | rs56387224 | p.N432D | Decreased or unchanged | 0–1 | 0 | 0 | |
c.1385A>G | rs72559748 | p.D462G | Unchanged | 0–1 | 0 | 0 | |
c.1463G>C | rs59502379 | p.G488A | Decreased | 0 | 3–9 | 0 | |
c.1495A>G | rs74064213 | p.I499V | 6 | ||||
c.1929A>C | rs34671512 | p.L643F | Unchanged | 3–9 | 5–13 | 0–1 | |
c.1964A>G | rs56199088 | p.D655G | Decreased | 0–2 | 0 | 0 | |
c.2000A>G | rs55737008 | p.E667G | Unchanged | 0–2 | 0–34 | 0 |