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

Table 4 Single nucleotide polymorphisms associated with low-density lipoprotein cholesterol identified through genome-wide association studies

Chromosome	Strongest SNP	Chromosome position	Sample size	MAF (average)	β	Pvalue	Proximal gene	Ref.
1	rs1167998	62 704 220	12 685	22	-0.155	7.8 × 10-23	PSRC1, CELSR2, SORT1	[27]
	rs646776	109 620 053	6382	22	-	4.9 × 10-19		[32]
	rs599839	109 623 689	1636	24	-	1.1 × 10-7		[34]
	rs602633	109 623 034	8589	20	-	4.8 × 10-14		[20]
	rs646776	109 620 053	16 791	22	-0.04	< 5 × 10-8	CELSR2	[31]
	rs646776	109 620 053	21 312	24	-0.16	5 × 10-42	PSRC1	[29]
	rs12740374	109 619 113	19 648	21	-0.23	2.0 × 10-42		[30]
	rs599839	109 623 689	11 685	21	-0.05	1.7 × 10-15		[40]
	rs646776	109 620 053	4337	21	-0.16	4.3 × 10-9		[40]
	rs12740374	109 619 113	5592	21	-0.15	1.8 × 10-9	SORT1	[36]
	rs646776	109 620 053	5592	22	-0.14	3.8 × 10-8		[36]
	rs629301	109 619 829	> 100 000	22	-5.65	1.0 × 10-170		[28]
1	rs11591147	55 278 235	16 826	2	-0.12	< 5 × 10-8	PCSK9	[31]
	rs11591147	55 278 235	12 167	2	-0.13	< 5 × 10-8		[31]
	rs11591147	55 278 235	21 312	1	-0.26	2.0 × 10-24		[30]
	rs11206510	55 268 627	19394			3.5 × 10-11		[20]
	rs11206510	55 268 627	19 629	19	-0.09	4.0 × 10-8		[30]
	rs11591147	55 278 235	5592		-0.55	9.3 × 10-12		[36]
	rs2479409	55 277 238	> 100 000	30	2.01	2.0 × 10-28		[28]
2	rs693	21 085 700	2601	22		7.1 × 10-7	APOB	[38]
	rs562338	21 141 826	1636 + 2631	17		8.6 × 10-13		[34]
	rs515135	21 139 562	8589	83		3.1 × 10-14		[20]
	rs562338	21 141 826	8589 + 10 849			5.6 × 10-22		[20]
	rs693	21 085 700	16 112	52	-0.098	3.6 × 10-17		[28]
	rs506585	21 250 687	6382	20	-4.6	9.3 × 10-9		[32]
	rs506585	21 250 687	16 842	20	-0.04	< 5 × 10-8		[31]
	rs693	21 085 700	21 312	48	0.12	1.0 × 10-21		[29]
	rs515135	21 139 562	19 648	20	-0.16	5.0 × 10-29		[30]
	rs562338	21 141 826	11 685	20	-0.04	1.4 × 10-9		[40]
	rs1713222	21 124 828	4337	16	-0.17	1.0 × 10-8		[40]
	rs562338	21 141 826	5592	18	-0.18	1.2 × 10-11		[36]
	rs1367117	21 117 405	> 100 000	30	4.05	4.0 × 10-114		[28]
2	rs6756629	43 918 594	12 706	92	0.157	2.6 × 10-10	ABCG5	[27]
2	rs6544713	43 927 385	23 456	32	0.15	2 × 10-20	ABCG8	[30]
	rs4299376	43 926 080	> 100 000	30	2.75	2.0 × 10-47	ABCG5/8	[28]
2	rs780094	27 594 741	16 841	40	0.03	< 5 × 10-8	GCKR	[31]
5	rs1501908	156 330 747	27 280	37	-0.07	1 × 10-11	TIMD4-HAVCR1	[30]
5	rs3846662	74 686 840	16 135	44	0.079	1.5 × 10-11	HMGCR	[27]
	rs12654264	74 684 359	2758 + 18 554	39	0.1	1.0 × 10-20		[29]
	rs3846663	74 691 482	19 648	38	0.07	8.0 × 10-12		[30]
	rs12654264	74 684 359	5592	38	0.11	5.8 × 10-8		[36]
6	rs3757354	88 570 980	> 100 000	22	-1.43	1.0 × 10-11	MYLIP	[28]
6	rs1800562	26 201 120	> 100 000	6	-2.22	6.0 × 10-10	HFE	[28]
6	rs1564348	160 498 850	> 100 000	17	-0.56	2.0 × 10-17	LPA	[28]
7	rs12670798	21 573 877	12 695	24	0.089	6.1 × 10-9	DNAH11	[27]
7	rs4731702	130 083 924	16 747	49	-0.02	< 5 × 10-8	KLF14	[31]
8	rs6982636	126 548 497	16 798	47	-0.02	< 5 × 10-8	TRIB1	[31]
8	rs11136341	145 115 531	> 100 000	40	1.4	4.0 × 10-13	PLEC1	[28]
9	rs9411489	135 144 821	> 100 000	20	2.24	6.0 × 10-13	ABO	[28]
11	rs174570	61 353 788	16 153	83	0.11	4.4 × 10-13	FADS2/3	[31]
11	rs3135506	116 167 617	16 837	6	-0.13	< 5 × 10-8	APOA1-A5	[31]
	rs2072560	116 167 036	5592	6	0.22	2.4 × 10-7		[36]
11	rs11220462	125 749 162	> 100 000	14	1.95	1.0 × 10-15	ST3GAL4	[28]
12	rs7307277	123 041 109	16 804	34	-0.02	< 5 × 10-8	CCDC92/DNAH10/ZNF664	[31]
12	rs2650000	119 873 345	39 340	36	0.07	2.0 × 10-8	HNF1A	[30]
14	rs8017377	51 667 587	> 100 000	47	1.14	5.0 × 10-1	NYNRIN	[28]
16	rs708272	55 553 789	16 843	43	-0.04	< 5 × 10-8	CETP	[31]
	rs17231506	55 552 029	5592	32	-0.11	5.0 × 10-7		[36]
17	rs7206971	42 780 114	> 100 000	49	0.78	2.0 × 10-8	OSBPL7	[28]
19	rs1699614	19 519 472	21 312	10	-0.1	3 × 10-8	NCAN, CILP2, PBX4	[29]
	rs2228603	19 190 924	8589	7		1.8 × 10-7		[20]
	rs16996148	19 519 472	19 394			2.7 × 10-9		[20]
	rs10401969	19 268 718	19 648	6	-0.05	2.0 × 10-8		[30]
19	rs688	11 088 602	4267	45		7.3 × 10-7	LDLR	[34]
	rs6511720	11 063 306	8589	9		6.8 × 10-10		[20]
	rs6511720	11 063 306	19 394			4.2 × 10-23		[20]
	rs2228671	11 071 912	16 148	82	0.136	4.2 × 10-14		[27]
	rs6511720	11 063 306	6382	12	-7.7	5.2 × 10-15		[32]
	rs6511720	11 063 306	16 843	12	-0.04	< 5 × 10-8		[31]
	rs6511720	11 063 306	21 312	10	-0.26	2 × 10-51		[29]
	rs6511720	11 063 306	19 648	10	-0.26	2.0 × 10-26		[30]
	rs2228671	11 071 912	4337	12	-0.18	1.1 × 10-8		[40]
	rs17248720	11 059 187	5592	13	-0.31	7.8 × 10-25		[36]
	rs6511720	11 063 306	> 100 000	11	6.99	4.0 × 10-117		[28]
19	rs2075650	50 087 459	12 697	15	0.16	9.3 × 10-19	TOMM40-APOE	[27]
	rs157580	50 087 106	16 160	68	-0.111	2.1 × 10-19		[27]
	rs2075650	50 087 459	4337	13	0.23	7.1 × 10-14		[40]
	rs2075650	50 087 459	5592	14	0.23	1.1 × 10-14		[36]
19	rs4420638	50 114 786	2601	22		3.4 × 10-13	APOC1-APOE	[38]
	rs4420638	50 114 786	4267	19		8.3 × 10-14		[34]
	rs4420638	50 114 786	8589	12		1.5 × 10-21		[20]
	rs4420638	50 114 786	19 394			3.0 × 10-43		[20]
	rs4803750	49 939 467	6382	7	-9.6	3.6 × 10-14		[32]
	rs4803750	49 939 467	16 616	7	-9.3	< 5 × 10-8		[32]
	rs4420638	50 114 786	21 312	20	0.19	1.0 × 10-60		[29]
	rs4420638	50 114 786	11 881	16	0.29	4.0 × 10-27		[30]
	rs4420638	50 114 786	11 685	18	0.06	1.2 × 10-20	APOC2	[40]
	rs12721046	50 113 094	5592	15	0.21	7.6 × 10-14		[36]
	rs12721109	50 139 061	5592	2	-0.54	5.1 × 10-14		[36]
	rs4420638	50 114 786	> 100 000	17	7.14	9.0 × 10-147	APOE	[28]
19	rs10402271	50 021 054	11 685	33	0.03	4.1 × 10-8	BCAM	[40]
	rs4605275	50 030 333	4337	31	-0.13	4.7 × 10-8		[40]
19	rs4803750	49 939 467	4337	7	-0.28	2.4 × 10-11	BCL3	[40]
	rs1531517	49 934 013	5592	7	-0.22	5.3 × 10-8		[36]
19	rs10402271	50 021 054	5592	33	0.15	2.1 × 10-12	PVRL2	[36]
20	rs6065906	43 987 422	16 843	48	0.02	< 5 × 10-8	PLPT	[31]
20	rs6102059	38 662 198	28 895	32	-0.06	4.0 × 10-9	MAFB	[30]
20	rs6029526	39 106 032	> 100 000	47	1.39	4.0 × 10-19	TOP1	[28]

β: Estimated mean; CELSR2: Cadherin EGF LAG seven-pass G-type receptor 2; PSRC1: Proline/serine-rich coiled-coil 1; SORT1: Sortilin 1; PCSK9: Proprotein convertase subtilisin/kexin type 9; APOB: Apolipoprotein B; ABCG: ATP-binding cassette sub-family G; GCKR: Glucokinase (hexokinase 4) regulator; TIMD4: T-cell immunoglobulin and mucin domain containing 4; HAVCR1: Hepatitis A virus cellular receptor 1; HMGCR: 3-hydroxy-3-methylglutaryl-CoA reductase; MYLIP: Myosin regulatory light chain interacting protein; HFE: Human hemochromatosis; LPA: Lipoprotein, Lp(a); DNAH11: Dynein axonemal heavy chain 11; KLF14: Kruppel-like factor 14; TRIB1: Tribbles homolog 1; PLEC1: Plectin; ABO: ABO blood group (transferase A, α 1-3-N-acetylgalactosaminyltransferase, transferase B, α 1-3-galactosyltransferase); FADS: Fatty acid desaturase; APOA1: Apolipoprotien A1; ST3GAL4: ST3 β-galactoside α-2,3-sialyltransferase 4; CCDC92: Coiled-coil domain containing 92; DNAH10: Dynein axonemal heavy chain 10; ZNF664: Zinc finger protein 664; HNF1A: HNF1 homeobox A; NYNRIN: NYN domain and retroviral integrase containing; CETP: Cholesteryl ester transfer protein plasma; OSBPL7: Oxysterol binding protein-like 7; NCAN: Nucleoporin 214 kDa; CILP2: Cartilage intermediate layer protein 2; PBX4: Pre-B-cell leukemia homeobox 4; LDLR: Low density lipoprotein receptor; TOMM40: Translocase of outer mitochondrial membrane 40 homolog; APOE: Apolipoprotien E; APOC2: Apolipoprotein C-II; APOE: Apolipoprotien E; BCAM: Basal cell adhesion molecule; BCL3: B-cell CLL/lymphoma 3; PVRL2: Poliovirus receptor-related 2 (herpesvirus entry mediator B); PLPT: Proteolipid protein; MAFB: V-maf musculoaponeurotic fibrosarcoma oncogene homolog B; TOP1: Topoisomerase (DNA) 1; SNP: Single nucleotide polymorphisms; MAF: Minor allele frequency.