RETRACTED: Association of transforming growth factor beta-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis (Retracted article. See vol. 271, pg. 69, 2014)

被引：4

作者：

Alcinyi, M. V. ^{[1
]}

Dandara, C. ^{[2
]}

Garnieldien, J. ^{[3
]}

Heckmann, J. M. ^{[1
]}

机构：

[1] Groote Schuur Hosp, Dept Med, Neurol Res Grp, ZA-7925 Cape Town, South Africa

[2] Univ Cape Town, Fac Hlth Sci, Div Human Genet Clin & Lab Sci, ZA-7925 Cape Town, South Africa

[3] Univ Western Cape, S African Natl Bioinformat Inst, Bellville, South Africa

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2012年 / 246卷 / 1-2期

关键词：

Myasthenia gravis; Ophthalmoplegia; Extraocular muscles; Single nucleotide polymorphisms; Transforming growth factor beta-1; African; EXTRAOCULAR-MUSCLE; CELLS; FIBROGENESIS; EXPRESSION; UNIQUE; SMAD3; SNP;

D O I：

10.1016/j.jneuroim.2012.03.002

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：96 / 99

页数：4

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