International Journal of Vascular Medicine

Review Article

ABO Blood Groups and Cardiovascular Diseases

Table 1

ABO SNPs associated with cardiovascular disease and risk factors.


SNP	Major allele	Minor allele	Position on Ch9 (NCBI Build 137)^a	Location within ABO locus^a	MAF (NCBI Build 137)^a	MAF in studied population	Tagged ABO Blood Group	Associated Physiological/ Pathophysiological Trait^b	Reference

rs558240	G	A	136157133	5′ UTR	0.260	0.39	—	sE-selectin Variance	Qi et al. [21]
						0.38	—	sE-selectin Variance	Paterson et al. [22]
rs495828	G	T	136154867	5′ UTR	0.189	0.261	O	VTE Risk	Heit et al. [23]
						0.17	—	ACE Variance	Chung et al. [24]
rs649129	C	T	136154304	5′ UTR	0.189	—	A1	sICAM-1 Variance	Barbalic et al. [25]
						0.22	—	LDL Variance	Teslovich et al. [26]
rs579459	T	C	136154168	5′ UTR	0.189	—	A1	sICAM-1 Variance	Barbalic et al. [25]
						—	A1	sICAM-1 Variance	Kiechl et al. [27]
						0.2	A1	sE-selectin Variance	Paterson et al. [22]
						—	A1	sE-selectin Variance	Kiechl et al. [27]
						—	A1	sP-selectin Variance	Barbalic et al. [25]
						—	A1	sP-selectin Variance	Kiechl et al. [27]
rs651007	C	T	136153875	5′ UTR	0.190	0.2/0.22	—	VWF Variance	Zabaneh et al. [28]
						—	A1	sICAM-1 Variance	Qi et al. [21]
						—	A1	sICAM-1 Variance	Kiechl et al. [27]
						0.22	A1	sE-selectin Variance	Qi et al. [21]
						0.21	—	Cholesterol Variance	Teslovich et al. [26]
rs630014	G	A	136149722	Intron 1	0.460	0.48/0.48	—	VWF Variance	Zabaneh et al. [28]
						0.48	—	sE-selectin Variance	Paterson et al. [22]
rs529565	T	C	136149500	Intron 1	0.361	—	A11	VTE Risk	Wiggins et al. [29]
						0.37	O/A	MI Risk	Reilly et al. [4]
rs507666	G	A	136149399	Intron 1	0.164	0.2	A1	sICAM-1 Variance	Paré et al. [30]
						0.2	A1	sICAM-1 Variance	Paré et al. [31]
						—	A1	sICAM-1 Variance	Kiechl et al. [27]
rs505922	T	C	136149229	Intron 1	0.348	0.37	O/A	MI Risk	Reilly et al. [4]
						—	—	VTE Risk	Tregouet et al. [32]
rs500498	C	T	136148647	Intron 1	0.481	0.45	—	sICAM-1 Variance	Paré et al. [31]
						0.47	—	sE-selectin Variance	Paterson et al. [22]
rs674302	T	A	136146664	Intron 1	0.376	0.37	O/A	MI Risk	Reilly et al. [4]
rs8176668	A	T	136144059	Intron 1	0.325	0.4	—	sE-selectin Variance	Qi et al. [21]
rs612169	A	G	136143442	Intron 1	0.376	0.37	O/A	MI Risk	Reilly et al. [4]
						—	O	sICAM-1 Variance	Qi et al. [21]
						0.34	O	sE-selectin Variance	Qi et al. [21]
rs545971	C	T	136143372	Intron 1	0.376	0.37	O/A	MI Risk	Reilly et al. [4]
rs643434	G	A	136142355	Intron 1	0.391	0.39	O/A	MI Risk	Reilly et al. [4]
rs644234	T	G	136142217	Intron 1	0.389	0.39	O/A	MI Risk	Reilly et al. [4]
						0.35	—	sE-selectin Variance	Paterson et al. [22]
rs514659	A	C	136142203	Intron 1	0.376	—	O	VWF Variance	Campos et al. [33]
						—	O	VWF Variance	Smith et al. [34]
						0.37	O/A	MI Risk	Reilly et al. [4]
rs8176672	C	T	136142185	Intron 1	0.113	—	B	sE-selectin Variance	Qi et al. [21]
rs2519093	C	T	136141870	Intron 1	0.166	0.235	—	VTE Risk	Heit et al. [23]
rs8176681	T	C	136139754	Intron 1	0.333	0.42	—	sE-selectin Variance	Qi et al. [21]
rs657152	C	A	136139265	Intron 1	0.384	0.34/0.36	O	VWF Variance	Zabaneh et al. [28]
						0.4	O/A	MI Risk	Reilly et al. [4]
						—	A11	VTE Risk	Wiggins et al. [29]
						—	A11	VTE Risk	Tregouet et al. [32]
						0.37	—	sICAM-1 Variance	Paré et al. [31]
						0.38	—	sE-selectin Variance	Qi et al. [21]
						0.35	—	sE-selectin Variance	Paterson et al. [22]
						0.373	O	Phytosterol Variance	Teupser et al. [35]
rs8176694	T	C	136137646	Intron 1	0.116	0.19/0.18	—	VWF Variance	Zabaneh et al. [28]
rs687289	G	A	136137106	Intron 2	0.367	0.37	O/A	MI Risk	Reilly et al. [4]
						0.34	O	sICAM-1Variance	Paré et al. [31]
rs687621	A	G	136137065	Intron 2	0.373	—	—	VWF Variance	Smith et al. [34]
						0.37	O/A	MI Risk	Reilly et al. [4]
						0.34	—	sICAM-1 Variance	Paré et al. [31]
rs688976	C	A	136136770	Exon 3	0.289	0.23/0.22	—	VWF Variance	Zabaneh et al. [28]
rs8176704	G	A	136135552	Intron 3	0.051	—	A2	VWF Variance	Campos et al. [33]
						—	A2	VWF Variance	Smith et al. [34]
						—	A2	VTE Risk	Heit et al. [23]
						—	A2	sICAM-1 Variance	Paré et al. [31]
						—	A2	sICAM-1 Variance	Qi et al. [21]
						—	A2	sICAM-1 Variance	Barbalic et al. [25]
						—	A2	sE-selectin Variance	Qi et al. [21]
						—	A2	sP-selectin Variance	Barbalic et al. [25]
rs549446	C	T	136135238	Exon 4	0.420	0.25/0.24	—	VWF Variance	Zabaneh et al. [28]
rs638756	A	C	136134472	Intron 4	0.300	0.25/0.24	—	VWF Variance	Zabaneh et al. [28]
rs512770	G	A	136133506	Exon 5	0.262	0.21/0.2	O2	VWF Variance	Zabaneh et al. [28]
						—	O2	VWF Variance	Smith et al. [34]
rs8176719	Del	G	136132908	Exon 6	0.348	—	O	VTE Risk	Tregouet et al. [32]
						0.416	O	VTE Risk	Heit et al. [23]
						0.34	O	sE-selectin Variance	Paterson et al. [22]
rs8176722	C	A	136132754	Intron 6	0.131	0.08/0.08	B	VWF Variance	Zabaneh et al. [28]
						—	B	VWF Variance	Tregouet et al. [32]
rs8176734	G	A	136132079	Intron 6	—	—	O12	VTE Risk	Wiggins et al. [29]
rs8176740	A	T	136131472	Exon 7	0.267	0.25/0.24	—	VWF Variance	Zabaneh et al. [28]
rs8176746	G	T	136131322	Exon 7	0.123	—	B	VTE Risk	Tregouet et al. [32]
						—	B	sICAM-1 Variance	Paré et al. [31]
						0.16	—	ACE Variance	Chung et al. [24]
rs8176749	C	T	136131188	Exon 7	0.123	—	B	VWF Variance	Smith et al. [34]
						—	B	VTE Risk	Wiggins et al. [29]
rs8176750	C	Del	136131059	Exon 7	—	—	A2	VTE Risk	Tregouet et al. [32]
rs7857390	G	A	136128546	3′ UTR	0.320	0.4	—	sE-selectin Variance	Qi et al. [21]

ACE: angiotensin-converting enzyme; LDL: low density lipoprotein; MAF: minor allele frequency; MI: myocardial infarction; sICAM-1: soluble intercellular adhesion molecule-1; VTE: venous thromboembolism; VWF: von Willebrand factor.
^aThe chromosomal location and MAF for each SNP table entry was obtained by querying each SNP rs number in the NCBI Single Nucleotide Polymorphism database (dbSNP), build 137 on the 13th of September, 2012 (http://www.ncbi.nlm.nih.gov/projects/SNP/).
^bThe associated physiological/pathophysiological traits were extracted from the National Human Genome Research Institute (NHGRI) GWA catalog database (http://www.genome.gov/gwastudies/) and queried publications from PubMed (http://www.ncbi.nlm.nih.gov/pubmed).