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

Table 1 Single Nucleotide Polymorphisms associated with coronary heart disease in genome-wide association studies

Chromosome	SNP	Position	Sample size	MAF (%)	OR (95% CI)	Pvalue	Proximal gene	Ref.
1	rs646776	109 620 053	9746/9746	81.0	1.17 (1.11-1.24)		CELSR2	[18,20,21]
	rs599839	109 623 689	2801/4582	-	1.29 (1.18-1.40)	4.05 × 10-9	PSRC1
	rs599839	109 623 689	1926/2938	80.8	1.20 (1.10-1.31)	1.30 × 10-5	SORT1
1	rs11206510	55 268 627	25 5381	81.0	1.15 (1.10-1.21)		PCSK9	[21]
1	rs17465637	220 890 152	9746/9746	72.0	1.13 (1.08-1.18)		MIA3	[18,21]
			2801/4582	-	1.20 (1.12-1.30)	1.27 × 10-6
2	rs6725887	203 454 130	9746/9746	14.0	1.17 (1.11-1.23)		WDR12	[21]
2	rs2943634	226 776 324	2801/4582	37/32	1.21 (1.03-1.30)	1.60 × 10-7	Intergenic	[18]
3	rs9818870	139 604 812	19 407/21 366	17.3/15.4	1.15 (1.11-1.19)	7.44 × 10-13	MRAS	[23]
6	rs12526453	13 035 530	25 5381	65.0	1.12 (1.08-1.17)		PHACTR1	[21]
6	rs6922269	151 294 678	2801/4582	30.0/26.0	1.23 (1.15-1.33)	2.90 × 10-8	MTHFD1L	[18]
	rs6922269	151 294 678	1926/2938	29.4/25.3	1.17 (1.04-1.32)	1.50 × 10-5
62	rs2048327	160 783 522	4976/4383	4.1/2.1	1.82 (1.57-2.12)	4.20 × 10-15	SLC22A3	[22]
	rs3127599	160 827 124					LPAL2
	rs7767084	160 882 493					LPA
	rs10755578	160 889 728
9	rs10757278	22 114 477	1607/6728	51.7/45.3	1.28 (1.22-1.35)	3.60 × 10-14	CDKN2A	[15,16,18,19,21,22,23,25]
	rs10757274	22 086 055	-	25.3/20.4	1.33 (1.23-1.47)		CDKN2B
	rs1333049	22 115 503	875/1644	54.0/48.0	1.33 (1.18-1.51)	3.40 × 10-6
	rs1333049	22 115 503	1926/2938	55.4/47.4	1.47 (1.27-1.70)	1.16 × 10-13	MTAP
	rs1333049	22 115 503	12 004/28 949	-	1.24 (1.20-1.28)
	-		9746/9746	56.0	1.28 (1.23-1.33)
	rs4977574	22 088 574	-	-	-
	-		19 407/21 366	-	-
	-		33 282	-	1.20 (1.08-1.34)3
	rs1333049	22 115 503
10	rs1746048	44 095 830	9746/9746	84.0	1.14 (1.08-1.21)		CXCL12	[18,21]
	rs501120	44 073 873	2801/4582	-/-	1.33 (1.20-1.48)	9.46 × 10-8
12	rs2259816	119 919 970	19 407/21 366	37.4/35.8	1.08 (1.05-1.11)		HNF1A-C12 or f43	[23]
16	rs4329913	55 462 933	18 245	-	1.29 (1.02-1.63)3		CETP	[26]
	rs7202364	55 342 891			0.76 (0.59-0.99)3
19	rs1122608	11 024 601	25 5381	75.0	1.15 (1.10-1.20)		LDLR	[20,21]
	rs6511720	11 063 306	1926/2938	90.2	1.29 (1.10-1.52)	6.70 × 10-4
19	rs4420638	50 114 786	1926/2938	20.9	1.17 (1.08-1.28)	1.00 × 10-4	APOE/C1/C4	[20,21]
	rs4420638	50 114 786	14 365/30 576
21	rs9982601	34 520 998	25 5381	13.0	1.28 (1.23-1.33)		MRPS6	[21]
							SLC5A3
							KCNE2

¹WTCC and GerMIFS I and GerMIFS II were added to the total sample; ²Haplotype CCTC; ³Hazard ratio per allele after adjustment for age and multiple risk factors. 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; MIA3: Melanoma inhibitory activity family member 3; WDR12: WD repeat protein 12; MRAS: Ras-related protein M-Ras; PHACTR1: Phosphatase and actin regulator 1; MTHFD1L: Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; SLC22A3: Solute carrier family 22 (extraneuronal monoamine transporter), member 3; LPAL2: Lipoprotein; Lp(a)-like 2 pseudogene; LPA: Lipoprotein Lp(a); CDKN2A: Cyclin-dependent kinase inhibitor 2A; CDKN2B: Cyclin-dependent kinase inhibitor 2B; MTAP: Methylthioadenosine phosphorylase; CXCL12: Chemokine (C-X-C motif) ligand 12; HNF1A-C12: Hepatocyte nuclear factor-1 homeobox A; CETP: Cholesteryl ester transfer protein plasma; LDLR: Low density lipoprotein receptor; APOE/C1/C4: Apolipoprotein; MRPS6: Mitochondrial ribosomal protein S6; SLC5A3: Solute carrier family 5 (sodium/myo-inositol cotransporter) member 3; KCNE2: Potassium voltage-gated channel subfamily E member 2; SNP: Single nucleotide polymorphisms; MAF: Minor allele frequency; OR: Odds ratio.