title: Global Gene Expression Patterns and Somatic Mutations in Sporadic Intracranial Aneurysms.
abstract: BACKGROUND
  High-throughput sequencing technologies can expand our understanding of the pathologic basis of intracranial aneurysms (IAs). Our study was aimed to decipher the gene expression signature and genetic factors associated with IAs.
  
  
  METHODS
  We determined the gene expression levels of 3 cases of IAs by RNA sequencing. Bioinformatics analysis was conducted to identify the differentially expressed genes (DEGs) and uncover their biological function. In addition, whole genome sequencing was performed on an additional 6 cases of IAs to detect the potential somatic alterations in DEGs.
  
  
  RESULTS
  Compared with the normal arterial tissue, 1709 genes were differentially expressed in IAs arterial tissue. The most significantly up-regulated gene and down-regulated gene, H19 and HIST1H3J, may be essential for tumorigenesis of IAs. Hub protein of IKBKG in protein-protein interaction network was probably involved in the inflammation process in aneurysms. Another 2 hub proteins, ACTB and MKI67IP, as well as up-regulated genes, might be abnormally activated in aneurysms and involved in the pathogenesis of IAs. Further whole genome sequencing and filtering yielded 4 candidate somatic single nucleotide variants including MUC3B, and BLM may be involved in the pathogenesis of IAs. Even though, our results do not support the hypothesis of somatic mutations occurred in the DEGs.
  
  
  CONCLUSIONS
  Two-dimensional genomic data from transcriptome and whole genome sequencing indicated that no somatic mutations occurred in DEGs. In addition, 3 DEGs (IKBKG, ACTB, and MKI67IP) and 2 mutant genes (MUC3B and BLM) were essential in IAs.
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China. Electronic address: 2862826488@qq.com.
authors.forename: Zhili
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Haibin
authors.initials: H
authors.lastname: Tan
authors.affiliation: Key Laboratory of SiChuan Province in Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Guangfu
authors.initials: G
authors.lastname: Huang
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Zhenyu
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Ling
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Yin
authors.affiliation: Department of Neurosurgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, People's Republic of China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D002536:Cerebral Arteries / Q000378:metabolism*; D019295:Computational Biology; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017423:Sequence Analysis, RNA; D059467:Transcriptome
keywords: Inflammatory; Intracranial aneurysms; RNA sequencing; Whole genome sequencing