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Table 1 Human diseases and VEGFA rSNPs found to be significantly associated in the referenced study

From: VEGFA rSNPs, transcriptional factor binding sites and human disease

Disease/condition

rSNP distance from TSS

rSNP

Allele

TFBS

Reference

Severe ischemic complications in GCA

(−) 634 bp

rs2010963

C

GABPa, IRF1,2

[14, 27]

   

G

SP1

 

Henoch–Schonlein purpura + nephritis

  

C

 

[15]

   

G

  

Ventricular septal defect

  

C

 

[16]

   

G

  

Recurrent depressive disorder

  

C

 

[17]

   

G

  

Coronary artery disease

  

C

 

[18]

   

G

  

Henoch–Schonlein purpura + nephritis

(−) 1,154 bp

rs1570360

A

SP1, ZNG354C

[15]

   

G

KLF4, MIZF

 

Henoch–Schonlein purpura + renal sequelae

  

A

 

[15]

   

G

  

Proliferative diabetic retinopathy

  

A

 

[19]

   

G

  

Sporadic Alzheimer’s disease

  

A

 

[20]

   

G

  

Hypertensive nephropathy

  

A

 

[21]

   

G

  

Coronary artery disease

(−) 2,578 bp

rs699947

A

NFIC

[18]

   

C

GATA3, HIF1a:ARNT, TAL1:TCF3

 
  1. rSNP alleles alter the transcriptional factor binding sites (TFBS) in non-coding regulatory regions of the gene. The rSNP alleles are found only in these TFBS. Alleles in bold are increased in patients compared to controls. TSS is the VEGFA transcriptional start site