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Table 1 SNPs analyzed in the study

From: Genetic association study of coronary collateral circulation in patients with coronary artery disease using 22 single nucleotide polymorphisms corresponding to 10 genes involved in postischemic neovascularization

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 [1012] 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 [3941]
Influences mRNA expression [3638]
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 [4850]
rs3093030 c.-286C > T Non coding exon Non coding transcript exon variant 0.208 - - Related to s-ICAM1 levels [49, 51]
TGFB1 Both [1719] 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 [5557] -
  1. Abbreviations: CCC, coronary collateral circulation; CAD, coronary artery disease. FS score: functional effects of SNPs obtained from 16 bioinformatics tools and databases. (http://compbio.cs.queensu.ca/F-SNP/)