title: Association of transforming growth factor β-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis.
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.
authors.affiliation: Neurology Research Group, Department of Medicine, Groote Schuur Hospital & University of Cape Town, Cape Town 7925, South Africa.
authors.forename: M V
authors.initials: MV
authors.lastname: Akinyi
authors.forename: C
authors.initials: C
authors.lastname: Dandara
authors.forename: J
authors.initials: J
authors.lastname: Gamieldien
authors.forename: J M
authors.initials: JM
authors.lastname: Heckmann
mesh_terms: D005355:Fibrosis; D006801:Humans; D018482:Muscle, Skeletal / Q000276:immunology / Q000473:pathology; D009157:Myasthenia Gravis / Q000235:genetics / Q000276:immunology* / Q000473:pathology*; D009886:Ophthalmoplegia / Q000235:genetics / Q000276:immunology* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide / Q000276:immunology*; D013019:South Africa; D053773:Transforming Growth Factor beta1 / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D015854:Up-Regulation / Q000235:genetics / Q000276:immunology
chemical_list: D053773:Transforming Growth Factor beta1