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 locusa | MAF (NCBI Build 137)a | MAF in studied population | Tagged ABO Blood Group | Associated Physiological/ Pathophysiological Traitb |
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).