Project

Study of the role of genetic variation in the phenotypic variability and response to treatment in patients with Marfan Syndrome

Code
42I08907
Duration
01 January 2008 → 31 December 2010
Funding
Funding by bilateral agreement (private and foundations)
Promotor
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
modifier marfan syndrome gene
 
Project description

Marfan syndrome is an autosomal dominant disease characterized by multisystemic involvement including ectopia lentis, skeletal overgrowth and aortic root dilatation. Althought the genetic basis for the disease has been identified as the FBN1 gene, the molecular basis for its wide inter- and intrafamilial variability has not been identified. This study studies the influence of single nucleotide polymophisms in the genes encoding in this variability. It also addresses the role of SNPs in the rennin-agniotensin pathway in the patients response to treatment with losartan.