title: [The preliminary study of gene copy number variation association with scar hyperplasia based on the whole-gene resequencing].
abstract: OBJECTIVE
  To investigate the genome copy number variation (CNV) related with keloid using the whole-gene resequencing technology.
  
  
  METHODS
  A keloid pedigree containing 4 generation of 27 people was studied. Five people (4 cases of keloid patients, and 1 case of normal) were selected to extract the genomic DNA. Then the whole-gene resequencing technique was used to check the variations based on the Illumina Hiseq 2000.
  
  
  RESULTS
  Through database comparison and variation annotation analysis, 15 CNVs associated with scar hyperplasia were obtained. DAVID software was used to do the Gene Ontology and pathway analysis. Five CNVs were closely related to the keloid formation. They were growth factor receptor-bound 7 (Grb7), mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), mitogen-activated protein kinase kinase kinase 15 (MAP3K15), kruppel-like factors 7 (KLF7) and NK2 homeobox 2 (NKX2-2). These CNVs were involved in the process of epidermal cells formation and differentiation, cell exocrine and cell adhesion.
  
  
  CONCLUSIONS
  There are 5 CNVs associated with scar hyperplasia. Especially MAP3K15 and MAP4K4 deserve more research to find their function in keloid formation.
authors.affiliation: Medical School of Chinese People's Liberation Army, Beijing 100853, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.forename: Guodong
authors.initials: G
authors.lastname: Teng
authors.affiliation: Department of Burn and Plastic Surgery, the First Affiliated Hospital of General Hospital of Chinese People's Liberation Army. Email: chenml@sohu.com.
authors.forename: Minliang
authors.initials: M
authors.lastname: Chen
authors.forename: Kui
authors.initials: K
authors.lastname: Ma
authors.forename: Tongtong
authors.initials: T
authors.lastname: Yan
mesh_terms: D002921:Cicatrix / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D000090322:Homeobox Protein Nkx-2.2; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D010375:Pedigree; D014157:Transcription Factors