1. Association of transforming growth factor β-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis.
- Author
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Akinyi MV, Dandara C, Gamieldien J, and Heckmann JM
- Subjects
- Fibrosis, Humans, Muscle, Skeletal immunology, Muscle, Skeletal pathology, Myasthenia Gravis genetics, Ophthalmoplegia genetics, South Africa, Transforming Growth Factor beta1 biosynthesis, Transforming Growth Factor beta1 physiology, Up-Regulation genetics, Up-Regulation immunology, Myasthenia Gravis immunology, Myasthenia Gravis pathology, Ophthalmoplegia immunology, Ophthalmoplegia pathology, Polymorphism, Single Nucleotide immunology, Transforming Growth Factor beta1 genetics
- 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., (Copyright © 2012 Elsevier B.V. All rights reserved.)
- Published
- 2012
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