Implications of discoveries from genome-wide association studies in current cardiovascular practice

Table 2 Single nucleotide polymorphisms associated with total cholesterol identified through genome-wide association studies

Chromosome	Strongest SNP	Chromosome position	Sample size	MAF (average)	β	Pvalue	Proximal gene	Ref.
1	rs10903129	25 641 524	22 550	54	0.061	5.4 × 10-10	TMEM57	[27]
1	rs1167998	62 704 220	17 346	32	-0.073	6.4 × 10-10	DOCK7	[27]
	rs108889353		19 099	32	-0.079	3.7 × 10-12		[27]
1	rs646776	109 620 053	17 441	22	-0.128	8.5 × 10-22	CELSR2	[27]
1	rs12027135	25 648 320	> 100 000	45	-1.22	4.0 × 10-11	LDLRAP1	[28]
1	rs7515577	92 782 026	> 100 000	21	-1.18	3.0 × 10-8	EVI5	[28]
1	rs2642442	219 040 186	> 100 000	48	-1.36	5.0 × 10-14	IRF2BP2	[28]
2	rs693	21 085 700	22 500	52	-0.096	8.7 × 10-23	APOB	[27]
2	rs6756629	43 918 594	17 472	92	0.145	1.5 × 10-11	ABCG5	[27]
2	rs7570971	135 554 376	> 100 000	34	1.25	2.0 × 10-8	RAB3GAP1	[28]
3	rs2290159	12 603 920	> 100 000	22	-1.42	4.0 × 10-9	RAF1	[28]
5	rs384662	35 421 429	20 873	44	0.092	2.5 × 10-19	HMGCR	[27]
	rs12916	74 692 295	> 100 000	39	2.84	9.0 × 10-47		[28]
5	rs6882076	156 322 875	> 100 000	35	-1.98	7.0 × 10-28	TIMD4	[28]
6	rs3177928	32 520 413	> 100 000	16	2.31	4.0 × 10-19	HLA	[28]
6	rs2814982	34 654 538	> 100 000	11	-1.86	5.0 × 10-11	C6orf106	[28]
6	rs9488822	116 419 586	> 100 000	35	-1.18	2.0 × 10-10	FRK	[28]
7	rs12670798	21 573 877	> 100 000	23	1.43	9.0 × 10-10	DNAH11	[28]
7	rs2072183	44 545 705	> 100 000	25	2.01	3.0 × 10-11	NPC1L1	[28]
8	rs6987702	126 573 908	17 413	29	0.073	3.3 × 10-9	TRIB1	[27]
8	rs2081687	59 551 119	> 100 000	35	1.23	2.0 × 10-12	CYP7A1	[28]
8	rs2737229	116 717 740	> 100 000	30	-1.11	2.0 × 10-8	TRPS1	[28]
10	rs2255141	113 923 876	> 100 000	30	1.14	2.0 × 10-10	GPAM	[28]
11	rs174570	61 353 788	20 916	83	0.088	1.5 × 10-10	FADS2/3	[27]
11	rs10128711	18 589 560	> 100 000	28	-1.04	3.0 × 10-8	SPTY2D1	[28]
11	rs7941030	122 027 585	> 100 000	38	0.97	2.0 × 10-10	UBASH3B	[28]
12	rs11065987	110 556 807	> 100 000	42	-0.96	7.0 × 10-12	BRAP	[28]
12	rs1169288	119 901 033	> 100 000	33	1.42	1.0 × 10-14	HNF1A	[28]
16	rs2000999	70 665 594	> 100 000	20	2.34	3.0 × 10-24	HPR	[28]
19	rs2228671	11 071 912	20 910	88	0.158	9.3 × 10-24	LDLR	[27]
19	rs2304130	19 650 528	20 914	7	-0.153	2.0 × 10-15	NCAN	[27]
19	rs2075650	50 087 459	17 463	15	0.138	2.9 × 10-19	TOMM40-APOE	[27]
	rs157580	50 087 106	20 903	33	-0.09	5.1 × 10-17		[27]
19	rs10401969	19 268 718	> 100 000	7	-4.74	3.0 × 10-38	CILP2	[28]
19	rs492602	53 898 229	> 100 000	49	1.27	2.0 × 10-10	FLJ36070	[28]
20	rs2277862		> 100 000	15	-1.19	4.0 × 10-10	ERGIC3	[28]
20	rs2902940	38 524 901	> 100 000	29	-1.38	6.0 × 10-11	MAFB	[28]

TMEM57: Transmembrane protein 57; DOCK7: Dedicator of cytokinesis 7; CELSR2: Cadherin, EGF LAG seven-pass G-type receptor 2; LDLRAP1: Low density lipoprotein receptor adaptor protein 1; EVI5: Ecotropic viral integration site 5; IRF2BP2: Interferon regulatory factor 2 binding protein 2; APOB: Apolipoprotein B; ABCG5: ATP-binding cassette sub-family G member 5; RAB3GAP1: RAB3 GTPase activating protein subunit 1 (catalytic); RAF1: v-raf-1 murine leukemia viral oncogene homolog 1; HMGCR: 3-hydroxy-3-methylglutaryl-CoA reductase; TIMD4: T-cell immunoglobulin and mucin domain containing 4; HLA: Human leukocyte antigen (HLA) complex; C6orf106: Chromosome 6 open reading frame 106; FRK: Fyn-related kinase; DNAH11: Dynein, axonemal, heavy chain 11; NPC1L1: NPC1 (Niemann-Pick disease, type C1, gene)-like 1; TRIB1: Tribbles Homolog-1 (Trib1); CYP7A1: Cytochrome P450, family 7, subfamily A, polypeptide 1; TRPS1: Trichorhinophalangeal syndrome 1; GPAM: Glycerol-3-phosphate acyltransferase; mitochondrial; FADS: Fatty acid desaturase; SPTY2D1: Suppressor of Ty, domain containing 1 (S. cerevisiae); UBASH3B: Ubiquitin associated and SH3 domain containing B; BRAP: BRCA1 associated protein; HNF1A: Hepatocyte nuclear factor-1 α; HPR: Haptoglobin-related protein; LDLR: Low density lipoprotein receptor; NCAN: Neurocan; TOMM40: Translocase of outer mitochondrial membrane 40 homolog; CILP2: Cartilage intermediate layer protein 2; ERGIC3: Endoplasmic reticulum-Golgi intermediate compartment protein 3; MAFB: V-maf musculoaponeurotic fibrosarcoma oncogene homolog B; SNP: Single nucleotide polymorphisms; MAF: Minor allele frequency.