Associations of genetically proxied inhibition of HMG-CoA reductase, NPC1L1, and PCSK9 with breast cancer and prostate cancer

Table 1 Characteristics of LDL-C-lowering genetic variants proxied for inhibition of HMG-CoA reductase, NPC1L1, and PCSK9

SNP^a	Nearest gene	Position (build 37)	EA	NEA	EAF	Beta	Se	P value
HMG-CoA reductase
rs12916	HMGCR	chr5:74656539	T	C	0.57	− 0.073	0.004	7.8e−78
rs10515198	HMGCR	chr5:74641560	G	A	0.90	− 0.060	0.006	6.0e−22
rs12173076	CERT1	chr5:74697050	T	G	0.88	− 0.065	0.006	2.3e−27
rs3857388	HMGCR	chr5:74620377	T	C	0.87	− 0.042	0.006	2.2e−11
rs7711235	ANKRD31	chr5:74540397	A	G	0.73	− 0.038	0.006	5.0e−10
NPC1L1
rs2073547	NPC1L1	chr7:44582331	A	G	0.81	− 0.049	0.005	1.9e−21
rs217386	DDX56	chr7:44600695	A	G	0.41	− 0.036	0.004	1.2e−19
rs7791240	DDX56	chr7:44602589	T	C	0.91	− 0.043	0.007	1.8e−10
PCSK9
rs11591147	PCSK9	chr1:55505647	T	G	0.02	− 0.497	0.018	8.6e−143
rs11206510	PCSK9	chr1:55496039	C	T	0.15	− 0.083	0.005	2.4e−53
rs2479409	PCSK9	chr1:55504650	A	G	0.67	− 0.064	0.004	2.5e−50
rs585131	PCSK9	chr1:55524116	C	T	0.18	− 0.064	0.005	2.7e−35
rs11206514	PCSK9	chr1:55516004	C	A	0.39	− 0.051	0.004	1.0e−32
rs2495477	PCSK9	chr1:55518467	G	A	0.40	− 0.064	0.005	7.3e−30
rs572512	PCSK9	chr1:55517344	C	T	0.65	− 0.048	0.005	5.3e−26
rs2479394	BSND	chr1:55486064	A	G	0.72	− 0.039	0.004	1.6e-19
rs12067569	PCSK9	chr1:55528629	G	A	0.97	− 0.089	0.010	2.0e−17
rs10493176	USP24	chr1:55538552	G	T	0.11	− 0.078	0.010	2.5e−14
rs11583974	USP24	chr1:55551718	G	A	0.97	− 0.065	0.012	4.0e−09

HMG-CoA reductase (HMGCR), 3-hydroxy-3-methylglutaryl coenzyme A; NPC1L1, Niemann-Pick C1-Like 1; PCSK9, proprotein convertase subtilisin/kexin type 9; SNP, Single-Nucleotide Polymorphism; EA, Effect Allele; NEA, Non-effect Allele; EAF, Effect Allele Frequency
^aLDL-C associated SNPs (P < 5.0 × 10^–8) in low linkage disequilibrium (r² < 0.20) with each other and within ± 100 kb windows of gene region encoding HMG-CoA reductase, NPC1L1, and PCSK9 were used as genetic instruments (adapted from Willer et al. [15])

ISSN: 1465-542X