Gene | Role in angiogenesis/arteriogenesis | SNP | Other HGVS names | Location | Functional category | FS score | Association to CCC | Association to CAD | Functional relevance |
---|---|---|---|---|---|---|---|---|---|
HIF1A | Both [7, 8] | rs11549465 | p.Pro582Ser | Exon 2 | Missense variant | 0.627 | [28] | [27] | Influences transactivation activity [27, 58] |
rs2057482 | c.*45 T > C | 3’-UTR | 3’ UTR variant | 0 | - | [27] | Influences transactivation activity [27] | ||
VEGFA | Both [10–12] | rs2010963 | c.-634C > G | Promoter | Regulatory region variant | 0.257 | [33] | [34] | Influences protein production [29] Related to VEGFA serum levels [30] |
rs1570360 | c.-1154A > G | Promoter | Regulatory region variant | 0.242 | - | - | Influences protein production and related to VEGFA serum levels [31] | ||
rs699947 | c.-2055A > C | Upstream gene | Regulatory region variant | 0.176 | [33] | [34] | Influences protein production and related to VEGFA serum levels [30, 31] | ||
rs3025039 | c.*237C > T | 3’-UTR | 3’ UTR variant | 0 | - | - | Related to VEGFA serum levels [32] | ||
rs833061 | c.-958C > T | Promoter | Regulatory region variant | 0.282 | - | - | Related to VEGFA serum levels [30] | ||
KDR | Both [13, 14] | rs1870377 | p.Gln472His | Exon 11 | Missense variant | 0.103 | - | [35] | - |
rs2305948 | p.Val297Ile | Exon 7 | Missense variant | 0.621 | - | [35] | - | ||
rs2071559 | c.-906 T > C | Promoter flanking | Regulatory region variant | - | [35] | - | |||
CCL2 | Arteriogenesis [22] | rs1024611 | g.2493A > G | Promoter flanking | Regulatory region variant | 0.208 | - | Related to myocardial infarction [39, 42] |
Related to MCP1 serum levels [39–41] Influences mRNA expression [36–38] |
rs1024610 | g.2936 T > A | Promoter flanking | Regulatory region variant | 0.158 | - | Related to myocardial infarction [39] | Related to MCP1 serum levels [39] | ||
rs2857657 | g.5837G > C | Non coding exon | Non coding transcript exon variant | 0.176 | - | - | - | ||
rs2857654 | g.2236C > A | Promoter flanking | Regulatory region variant | 0 | - | - | - | ||
NOS3 | Both [15, 16] | rs1799983 | p.Asp298Glu | Exon 7 | Missense variant | 1 | [45, 46] | [47] | Influences activity by different susceptibility to cleavage [43, 44] |
ICAM1 | Arteriogenesis [23] | rs5498 | p.Lys469Glu | Exon 2 | Missense variant | 0.092 | - | Related to coronary artery calcification [52] | Related to s-ICAM1 levels [48–50] |
rs3093030 | c.-286C > T | Non coding exon | Non coding transcript exon variant | 0.208 | - | - | Related to s-ICAM1 levels [49, 51] | ||
TGFB1 | Both [17–19] | rs1800469 | c.*309 T > C | Promoter | Regulatory region variant | 0.208 | - | [53] | - |
CD53 | - | rs6679497 | c.-17-5027C > G | Intron 2 | Regulatory region variant | - | - | Associated to TNFα levels [24], which has been related to arteriogenesis [25] | |
POSTN | Angiogenesis [26] | rs3829365 | c.-33C > G | Promoter flanking | Regulatory region variant | 0 | - | Associated with heart failure [54] | - |
rs1028728 | c.-953 T > A | Promoter flanking | Regulatory region variant | 0.5 | - | - | - | ||
LGALS2 | Both [20, 21] | rs7291467 | c.6 + 3279C > T | Intron 1 | Regulatory region variant | [21] | Related to myocardial infarction [55–57] | - |