Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients

Acta Neurochir (Wien). 2010 Dec;152(12):2153-60. doi: 10.1007/s00701-010-0711-9. Epub 2010 Jun 23.


Background: The etiology of Moyamoya disease (MMD) is still widely unknown. Several publications on Moyamoya describe differences of cytokine and growth factor concentrations in different specimen. We analyzed the DNA of patients with MMD for single nucleotide polymorphisms (SNPs) in and upstream of the genes for previously described associated cytokines and growth factors.

Method: Thirteen SNPs were genotyped in or upstream to four genes-basic fibroblast growth factor (BFGF), cellular retinoic acid-binding protein 1 (CRABP1), platelet derived growth factor receptor beta (PDGFRB), and transforming growth factor beta 1 (TGFB1)-comparing 40 DNA samples of MMD patients to 68 healthy controls from central Europe. Genotyping was performed by sequencing the SNP-containing genetic regions with custom made primers.

Findings: We found association of two SNPs: rs382861 [A/C] (p = 0.0373, OR = 1.81, 95% CI = 1.03-3.17) in the promoter region of PDGFRB and rs1800471[C/G] (p = 0.0345, OR = 7.65, 95% CI = 0.97-59.95), located in the first exon of TGFB1.

Conclusion: Our results indicate possible genetic risk factors for the genesis of MMD. TGFB1 and PDGFRB are involved in vascular growth and transformation processes which may play a role in the development of MMD. Further analyses in larger European cohorts and replication in patients of different ethnicity, as well as functional studies, may lead to possible early detection of patients at risk for developing MMD and subsequently to future preventive therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Moyamoya Disease / ethnology
  • Moyamoya Disease / genetics*
  • Moyamoya Disease / metabolism*
  • Polymorphism, Single Nucleotide / genetics*
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Transforming Growth Factor beta1 / genetics*


  • TGFB1 protein, human
  • Transforming Growth Factor beta1
  • Receptor, Platelet-Derived Growth Factor beta