. Author manuscript; available in PMC: 2018 Mar 1.

Published in final edited form as: Pharmacogenomics J. 2016 Feb 23;17(2):204–208. doi: 10.1038/tpj.2016.3

Table 2.

Association between PCSK9 variants and LDL-C response to statin treatment in AAs (N=669)

rsNumber	MAF	Association with LDL-C response to statin			Association with off- treatment (baseline) LDL-C	Reported Function ⁵
rsNumber	MAF	Beta	% Extra reduction¹	P-value²	P-value³	LOF / GOF	Amino Acid Change
rs11206510	0.1405	−0.008671	0.8671	0.7236	0.702	LOF
rs2479409	0.2735	0.006977	−0.6977	0.7192	0.2343	GOF
rs11591147	0.002242	−0.5562	55.62	0.002366	0.0002164	LOF	p.Arg46Leu
rs11583680	0.02167	−0.01173	1.173	0.8451	0.9105	LOF	p.Ala53Val
rs11800243	0.03587	−0.009405	0.9405	0.8375	0.3367	LOF
rs72646508⁴	0.0007474	-	-	-	-	LOF	p.Leu253Phe
rs28362261	0.01424	−0.1989	19.89	0.006384	0.06758	LOF	p.Asn425Ser
rs28362263	0.09595	−0.007844	0.7844	0.7848	0.2336	LOF	p.Ala443Thr
rs562556	0.2138	−0.00601	0.601	0.7714	0.9662	LOF	p.Ile474Val
rs505151	0.2827	0.03808	−3.808	0.05067	0.06105	GOF	p.Glu670Gly
rs28362286	0.004491	−0.1122	11.22	0.3832	0.5926	LOF	p.Cys679Ter

This percentage reflects the % additional LDL-C lowering in carriers versus non-carriers of the SNP.

P-value has been adjusted for age, sex, statin dose, PCs for ancestry, and ln(baseline LDL-C)

P-value has been adjusted for age, sex, and PCs for ancestry

⁴

There was only one carrier of rs72646508, so the variant was removed from single variant association analysis, but included in collective effect analysis

⁵

references :(Chen et al., 2005; Chernogubova et al., 2012; Cohen et al., 2006; Global Lipids Genetics Consortium, 2013; Kathiresan et al., 2009; Kotowski et al., 2006; Shioji et al., 2004; Turnbull et al., 2012; Waterworth et al., 2010; Willer et al., 2008; Wu et al., 2013)