Genetic Profiles Related to Pathogenesis in Sporadic Intracranial Aneurysm Patients

World Neurosurg. 2019 Nov:131:e23-e31. doi: 10.1016/j.wneu.2019.06.110. Epub 2019 Jun 22.

Abstract

Background: Intracranial aneurysm (IA) represents a cerebrovascular disorder that featured by dilation or bulging of the weakened blood vessel wall. When it ruptures, an IA leads to subarachnoid hemorrhage with high disability and mortality rates. Despite the numerous studies focusing on IA ruptures, little research on IA pathogenesis has been reported. In this study, we aimed to reveal key genes related to IA formation.

Methods: Four datasets from Gene Expression Omnibus data were downloaded, normalized, and separated into the IA group and the normal vessel control group for analyses. We screened for differentially expressed genes (DEGs) between groups and conducted functional enrichment, pathway enrichment, and gene set enrichment analysis analyses among significant DEGs.

Results: according to our analyses, significant DEGs majorly associate with smooth muscle system and the complement system. Among all DEGs, 5 down-regulated genes (MYH11, CNN1, MYOCD, ACTA1, and LMOD1) and 3 up-regulated genes (C1QB, C3AR1, and VSIG4) are most relevant in IA formation.

Conclusions: Key DEGs identified in this study are related to IA pathogenesis. Among identified DEGs, LMOD1 is the most significant and merits more attention.

Keywords: Bioinformatics; Intracranial aneurysm; Pathogenesis.

MeSH terms

  • Actins / genetics
  • Autoantigens / genetics
  • Calcium-Binding Proteins / genetics
  • Calponins
  • Case-Control Studies
  • Complement C1q / genetics
  • Complement System Proteins / genetics
  • Cytoskeletal Proteins / genetics
  • Down-Regulation
  • Gene Expression
  • Gene Expression Profiling
  • Humans
  • Intracranial Aneurysm / genetics*
  • Microfilament Proteins / genetics
  • Muscle, Smooth, Vascular / metabolism
  • Myocytes, Smooth Muscle / metabolism
  • Myosin Heavy Chains / genetics
  • Nuclear Proteins / genetics
  • Receptors, Complement / genetics
  • Trans-Activators / genetics
  • Up-Regulation
  • Vascular Remodeling / genetics

Substances

  • ACTA1 protein, human
  • Actins
  • Autoantigens
  • Calcium-Binding Proteins
  • Cytoskeletal Proteins
  • LMOD1 protein, human
  • MYH11 protein, human
  • Microfilament Proteins
  • Nuclear Proteins
  • Receptors, Complement
  • Trans-Activators
  • VSIG4 protein, human
  • complement C3a receptor
  • myocardin
  • Complement C1q
  • Complement System Proteins
  • Myosin Heavy Chains