Association of transforming growth factor β-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis

J Neuroimmunol. 2012 May 15;246(1-2):96-9. doi: 10.1016/j.jneuroim.2012.03.002. Epub 2012 Mar 27.

Abstract

We investigated the association of an ophthalmoplegic complication developing in African myasthenia gravis (MG) subjects with polymorphisms in the regulatory region of TGFB1. We found significant associations with several putative functional single nucleotide polymorphisms (SNPs) (including two novel SNPs) that potentially alter transcription factor binding. Our data support a hypothesis that altered TGFB1 regulation may predispose individuals who harbour these SNPs to developing ophthalmoplegia as a result of increased TGF-β1 driven myofibrosis as a consequence to complement-mediated damage.

Publication types

  • Research Support, Non-U.S. Gov't
  • Retracted Publication

MeSH terms

  • Fibrosis
  • Humans
  • Muscle, Skeletal / immunology
  • Muscle, Skeletal / pathology
  • Myasthenia Gravis / genetics
  • Myasthenia Gravis / immunology*
  • Myasthenia Gravis / pathology*
  • Ophthalmoplegia / genetics
  • Ophthalmoplegia / immunology*
  • Ophthalmoplegia / pathology*
  • Polymorphism, Single Nucleotide / immunology*
  • South Africa
  • Transforming Growth Factor beta1 / biosynthesis
  • Transforming Growth Factor beta1 / genetics*
  • Transforming Growth Factor beta1 / physiology
  • Up-Regulation / genetics
  • Up-Regulation / immunology

Substances

  • Transforming Growth Factor beta1