Article
Polymorphisms in TGFB1 and PDGFR are associated with moyamoya disease in European patients
Search Medline for
Authors
Published: | September 16, 2010 |
---|
Outline
Text
Objective: The etiology of Moyamoya disease 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 Moyamoya disease for single nucleotide polymorphisms in and upstream of the genes for previously described associated cytokines and growth factors.
Methods: 13 SNPs were genotyped in or upstream to 4 genes (bFGF, CRABP1, PDGFRB, TGFB1) comparing 40 DNA samples of Moyamoya disease patients to 68 healthy controls from central Europe. Genotyping was performed by sequencing the SNP containing genetic regions with custom made primers.
Results: 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 PDGFR and rs1800471[C/G] (p=0.0345, OR=7.65, 95% CI=0.97-59.95), located in the first exon of TGFB1.
Conclusions: Our results indicate possible genetic risk factors for the genesis of Moyamoya disease. TGFB1 and PDGF(R) are involved in vascular growth and transformation processes which may play a role in the development of Moyamoya disease. 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.