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Table 3 Differentially expressed genes in IA tissue present within IA risk associated TADs

From: Epigenetic landscapes of intracranial aneurysm risk haplotypes implicate enhancer function of endothelial cells and fibroblasts in dysregulated gene expression

  HUVEC TAD Fib. (IMR90) TAD
Gene (TAD found in) IA versus Ctr R versus UR IA versus Ctr R versus UR
BFSP1 (rs1132274)     Kleinloog (↓, − 4.0)
    Nakaoka (↓, − 1.8)
CASD1 (rs42524)   Kurki (↓, − 1.0)   
CDKN2A (rs2891168, rs10757278) Wang (↑, NR) Nakaoka (↓, − 1.9) Wang (↑, NR) Nakaoka (↓, − 1.9)
CDKN2B (rs2891168, rs10757278) Wang (↑, NR)   Wang (↑, NR)  
COL1A2 (rs42524) Li (↑, NR)   Li (↑, NR)  
Wang (↑, NR)   Wang (↑, NR)  
COL3A1 (rs1800255) Li (↑, NR)   Li (↑, NR)  
Wang (↑, NR)   Wang (↑, NR)  
COL5A2 (rs1800255) Li (↑, NR)    
Shi (↑, 3.3)    
Wang (↑, NR)    
DSTN (rs1132274)    Wang (↓, NR)  
GULP1 (rs1800255)   Kurki (↓, − 2.2)   Kurki (↓, − 2.2)
  Nakaoka (↓, − 1.3)   Nakaoka (↓, − 1.3)
IL6 (rs1800796)   Kurki (↑, 2.2)   Kurki (↑, 2.2)
KLHL7 (rs1800796)   Nakaoka (↑, 0.50)   Nakaoka (↑, 0.50)
MEOX2 (rs4628172) Wang (↓, NR)   Wang (↓, NR)  
MOB4 (rs1429412) Wang (↓, NR)   Wang (↓, NR)  
PDK4 (rs42524) Wang (↓, NR) Kurki (↑, 1.0)   
PLCL1 (rs700651)   Kleinloog (↓, − 4.0)   Kleinloog (↓, − 4.0)
  Kurki (↓, − 1.4)   Kurki (↓, − 1.4)
PPP1R9A (rs42524) Wang (↓, NR)    
RRBP1 (rs1132274)    Wang (↑, NR)  
SGCE (rs42524) Wang (↓, NR) Kurki (↓, − 2.3)   
SNX5 (rs1132274)    Wang (↑, NR)  
SOX17 (rs10958409, rs9598506) Wang (↓, NR) Nakaoka (↑, 0.88)   
TFPI (rs1800255)    Wang (↓, NR)  
TMEM167A (rs251124)   Kurki (↑, 1.2)   Kurki (↑, 1.2)
TOMM7 (rs1800796)   Kurki (↓, − 0.86)   Kurki (↓, − 0.86)
VCAN (rs251124) Shi (↑, 2.9)   Shi (↑, 2.9)  
Wang (↑, NR)   Wang (↑, NR)  
XRCC4 (rs251124)   Kleinloog (↑, 2.3)   Kleinloog (↑, 2.3)
  1. The log2(fold-change) for each gene as reported in the respective study is shown in parentheses. If study did not provide fold-change, NR is reported. Multiple probes corresponded to Nakaoka’s CDKN2A; average value was reported
  2. Ctr., control; Fib., fibroblast; HUVEC, human umbilical vein endothelial cell; IA, intracranial aneurysm; NR, not reported; R, ruptured; TAD, topologically associated domain; UR, unruptured