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growth factor beta-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis (Retracted article.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

共 20 条

[1]

Bateman KJ, 2007, SAMJ S AFR MED J, V97, P959

[2] TGF-β and Smad3 signaling link inflammation to chronic fibrogenesis [J].

Bonniaud, P ;

Margetts, PJ ;

Ask, K ;

Flanders, K ;

Gauldie, J ;

Kolb, M .

JOURNAL OF IMMUNOLOGY, 2005, 175 (08) :5390-5395

[3] Imbalance between pSmad3 and Notch induces CDK inhibitors in old muscle stem cells [J].

Carlson, Morgan E. ;

Hsu, Michael ;

Conboy, Irina M. .

NATURE, 2008, 454 (7203) :528-U9

[4] MUSCLE LESIONS IN MYASTHENIA GRAVIS [J].

FENICHEL, G .

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1966, 135 (A1) :60-&

[5] TGF-β, Smad3 and the process of progressive fibrosis [J].

Gauldie, J. ;

Bonniaud, P. ;

Sime, P. ;

Ask, K. ;

Kolb, M. .

BIOCHEMICAL SOCIETY TRANSACTIONS, 2007, 35 :661-664

[6] Functional impact of sequence variation in the promoter region of TGFB1 [J].

Healy, Jasmine ;

Dionne, Joelle ;

Belanger, Helene ;

Lariviere, Mathieu ;

Beaulieu, Patrick ;

Labuda, Damian ;

Sinnett, Daniel .

INTERNATIONAL JOURNAL OF CANCER, 2009, 125 (06) :1483-1489

[7] Myasthenia gravis in South Africans: Racial differences in clinical manifestations [J].

Heckmann, J. M. ;

Owen, E. P. ;

Little, F. .

NEUROMUSCULAR DISORDERS, 2007, 17 (11-12) :929-934

[8] A functional SNP in the regulatory region of the decay-accelerating factor gene associates with extraocular muscle pareses in myasthenia gravis [J].

Heckmann, J. M. ;

Uwimpuhwe, H. ;

Ballo, R. ;

Kaur, M. ;

Bajic, V. B. ;

Prince, S. .

GENES AND IMMUNITY, 2010, 11 (01) :1-10

[9]

Heckmann J.M., S AFR MED J IN PRESS

[10] TRANSDIFFERENTIATION OF MYOBLASTS BY THE ADIPOGENIC TRANSCRIPTION FACTORS PPAR-GAMMA AND C/EBP-ALPHA [J].

HU, ED ;

TONTONOZ, P ;

SPIEGELMAN, BM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (21) :9856-9860

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