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01.12.2010 | Clinical Article

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

verfasst von: Constantin Roder, Vera Peters, Hidetoshi Kasuya, Tsutomu Nishizawa, Yayoi Takehara, Daniela Berg, Claudia Schulte, Nadia Khan, Marcos Tatagiba, Boris Krischek

Erschienen in: Acta Neurochirurgica | Ausgabe 12/2010

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Abstract

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.

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Titel: Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients
verfasst von: Constantin Roder
Vera Peters
Hidetoshi Kasuya
Tsutomu Nishizawa
Yayoi Takehara
Daniela Berg
Claudia Schulte
Nadia Khan
Marcos Tatagiba
Boris Krischek
Publikationsdatum: 01.12.2010
Verlag: Springer Vienna
Erschienen in: Acta Neurochirurgica / Ausgabe 12/2010
Print ISSN: 0001-6268
Elektronische ISSN: 0942-0940
DOI: https://doi.org/10.1007/s00701-010-0711-9

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

Abstract

Background

Method

Findings

Conclusion

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Abstract

Background

Method

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Conclusion

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