Genetic susceptibility to keloid disease:: mutation screening of the TGFβ3 gene

被引:31
|
作者
Bayat, A
Walter, JM
Bock, O
Mrowietz, U
Ollier, WER
Ferguson, MWJ
机构
[1] Univ Manchester, Ctr Integrated Genom Med Res, Manchester M13 9PT, Lancs, England
[2] Transgenom Ltd, Crewe CW1 6UZ, Cheshire, England
[3] Univ Kiel, Dept Dermatol, D-2300 Kiel, Germany
[4] Univ Manchester, Sch Biol Sci, Manchester M13 9PT, Lancs, England
来源
BRITISH JOURNAL OF PLASTIC SURGERY | 2005年 / 58卷 / 07期
基金
英国医学研究理事会;
关键词
keloid; disease/scarring; transforming growth; factor beta three; mutation detection; polymorphisms; genetics;
D O I
10.1016/j.bjps.2005.04.009
中图分类号
R61 [外科手术学];
学科分类号
摘要
Ketoid disease (KD) is a fibroprotiferative dermal tumour of unknown aetiology. The increased familial clustering in KD, its increased prevalence in certain races and its presence in identical twins suggest a strong genetic predisposition to keloid formation. Transforming growth factor beta isoforms (TGF beta) play a central role in wound heating and fibrosis and have been implicated in KD pathogenesis. Recent data has suggested that TGF beta(3) has an important role in scar formation. There is little known about the genetic variation present within the TGF beta(3) gene, which contains seven exons and six introns spanning 43 000 base pairs of the human genome. Exons one to seven and the promoter region (1000 bp upstream from exon1 in the 5 '-flanking regions) were screened in 95 Caucasian KD cases and 95 Caucasian controls for the presence of novel mutations using a high throughput DHPLC mutation detection technology. There were no mutations identified in any of the exonic regions, however, multiple nondisease associated mutations were found in the promoter region of the TGF beta(3) gene. These data demonstrate that there is no association between the exonic and promoter regions of TGF beta(3) gene and keloid scarring in our cohort of Caucasian patients. (c) 2005 The British Association of Plastic Surgeoris. Pubtished by Elsevier Ltd. AR rights reserved.
引用
收藏
页码:914 / 921
页数:8
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