Analysis of TGFB1 in European and Japanese Moyamoya disease patients

Eur J Med Genet. 2012 Oct;55(10):531-4. doi: 10.1016/j.ejmg.2012.05.002. Epub 2012 Jun 1.


Background: Despite large efforts in researching the genesis of Moyamoya disease (MMD), the etiology of this rare disease remains widely unknown. In a previous publication we described two genetic variants in the first exon of transforming growth factor beta 1 (TGFB1) which were associated and showed a tendency toward significance, respectively. In this study we performed a follow-up analysis of TGFB1 by sequencing the complete exon 1 in European and by genotyping previously described positively associated single nucleotide polymorphisms (SNPs) in Japanese patients with MMD.

Methods: The complete first exon of TGFB1 was genotyped in 40 MMD patients and 68 healthy controls from central Europe. For verification, genotyping of the previously described SNPs rs1800470 and rs1800471 was performed in 45 Japanese MMD patients and 79 healthy controls. Analysis was performed by capillary sequencing with custom made primers.

Results: Sequencing of the first exon of TGFB1 in the European cohort did not reveal any new disease-associated nor other genetic variations. The previously described disease association of rs1800471 and tendency toward significance of rs1800470 could not be replicated in the Japanese cohort.

Conclusions: As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD patients and because of the negative association of rs1800470 and rs1800471 in Japanese MMD patients, a role of this exon of TGFB1 in the genesis of MMD is unlikely. Further analyses with even larger cohorts may be necessary to detect causal genetic factors that contribute to the genesis of this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Europe / epidemiology
  • Exons
  • Female
  • Humans
  • Infant
  • Japan / epidemiology
  • Male
  • Middle Aged
  • Moyamoya Disease / epidemiology
  • Moyamoya Disease / genetics*
  • Polymorphism, Single Nucleotide
  • Transforming Growth Factor beta1 / genetics*


  • TGFB1 protein, human
  • Transforming Growth Factor beta1