title: Copy number variations of the F8 gene are associated with venous thromboembolism.
abstract: BACKGROUND
  Venous thromboembolism (VTE) is a complex disease and several inherited and acquired factors are relevant to its occurrence. Among these, an elevated level of plasma coagulation factor VIII (FVIII) is an established risk factor for VTE; copy number variations (CNVs) have also been discovered to be associated with many diseases.
  
  
  OBJECTIVE
  To explore the proposed association between CNV of the F8 gene and the risk of VTE.
  
  
  METHODS
  A case-control study including 179 VTE patients and 176 healthy individuals were enrolled in this study. Activity of plasma factor VIII was measured. Genomic DNA was extracted for subsequent quantitative real-time PCR analysis of CNVs of the F8 gene.
  
  
  RESULTS
  Plasma factor VIII levels were significantly higher in VTE patients than in healthy controls (251% vs. 99%, p<0.01). Copy number of the F8 gene in VTE patients was significantly higher than in healthy controls. (male: p=6.1×10(-14), OR=12, 95%CI: 6.0-25; female: p=4.3×10(-10), OR=9.5, 95%CI: 4.5-20). Plasma factor VIII levels in the samples with high copies of the F8 gene were higher than in those individuals with normal copy number (male: p=0.023; female: p=0.036).
  
  
  CONCLUSIONS
  Amplification of the F8 gene copy number seems to enhance factor VIII activity and was associated with VTE.
authors: Department of Laboratory Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, PR China.
authors: Wei
authors: W
authors: Shen
authors: Yi
authors: Y
authors: Gu
authors: Rui
authors: R
authors: Zhu
authors: Lan
authors: L
authors: Zhang
authors: Jiwei
authors: J
authors: Zhang
authors: Chunmei
authors: C
authors: Ying
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D056915:DNA Copy Number Variations; D005169:Factor VIII / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D054556:Venous Thromboembolism / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D005169:Factor VIII