Journal
JOURNAL OF NEUROIMMUNOLOGY
Volume 246, Issue 1-2, Pages 96-99Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jneuroim.2012.03.002
Keywords
Myasthenia gravis; Ophthalmoplegia; Extraocular muscles; Single nucleotide polymorphisms; Transforming growth factor beta-1; African
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Funding
- University of Cape Town
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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-beta 1 driven myofibrosis as a consequence to complement-mediated damage. (C) 2012 Elsevier B.V. All rights reserved.
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