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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 [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]

-

  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/)