Genetic susceptibility to keloid disease and hypertrophic scarring:: Transforming growth factor β1 common polymorphisms and plasma levels
Genetic susceptibility to keloid disease and hypertrophic scarring:: Transforming growth factor β1 common polymorphisms and plasma levels
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DOI：
10.1097/01.prs.0000041536.02524.a3
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发表时间：
2003-02-01
影响因子：
3.6
通讯作者：
Ferguson, MWJ
中科院分区：
文献类型：
--
作者：
Bayat, A;Bock, O;Ferguson, MWJ
瘢痕疙瘩和增生性瘢痕是皮肤肿瘤，通常是家族性的，通常发生在某些种族。其确切病因仍不清楚。转化生长因子β 1（TGF-β 1）在创伤愈合和纤维化中起着重要作用，并与瘢痕疙瘩和增生性瘢痕的发病机制有关。本研究的目的是测量患者与对照组相比的TGF-β 1的血浆水平，并调查TGF-β 1中五种常见的单核苷酸多态性与瘢痕疙瘩疾病和增生性瘢痕形成风险的相关性。采用酶联免疫吸附试验技术测定了60例患者（15例增生性瘢痕和45例瘢痕疙瘩）和18例对照组血小板缺乏的TGF-β 1血浆水平。采用聚合酶链反应-限制性片段长度多态性方法对TGF-β 1多态性进行基因分型。检测了133例患者（101例瘢痕疙瘩患者和32例增生性瘢痕患者）和200例对照者的DNA样本。所有患者和对照组均为北方欧洲血统的高加索人。瘢痕疙瘩和增生性瘢痕患者与对照组之间TGF-β 1血浆水平无统计学显著差异。对于TGF-β 1基因的密码子10、25和263以及-509和-800单核苷酸多态性，患者和对照组之间的基因型或等位基因频率分布也没有统计学显著差异。这些结果表明，TGF-β 1血浆水平和常见的多态性与瘢痕疙瘩疾病和增生性瘢痕形成的风险无关。鉴于TGF-β 1在皮肤瘢痕形成中的作用的重要性，这种关联的缺乏可能是重要的。据作者所知，这是第一份使用任何单核苷酸多态性进行瘢痕疙瘩疾病和增生性瘢痕病例对照关联研究的报告。
Keloid disease and hypertrophic scars are dermal tumors that are often familial and typically occur in certain races. Their exact etiology is still unknown. Transforming growth factor beta1 (TGF-beta1) plays a central role in wound healing and fibrosis and has been implicated in the pathogenesis of keloid disease and hypertrophic scar. The aims of this study, were to measure the plasma level of TGF-beta1 in patients compared with controls, and to investigate the association of five common single nucleotide polymorphisms in TGF-beta1 with the risk of keloid disease and hypertrophic scar formation. Platelet-poor plasma levels of TGF-beta1 in 60 patients (15 with hypertrophic scar and 45 with keloid disease) and 18 controls were measured using an enzyme-linked immunoabsorbent assay technique. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping TGF-beta1 polymorphisms. DNA samples from 133 patients (101 with keloid disease and 32 with hypertrophic scar) and 200 controls were examined. All patients and controls were Caucasians of Northern European extraction. There was no statistically significant difference in TGF-beta1 plasma levels between patients with keloid disease and hypertrophic scar and controls. There was also no statistically significant difference in genotype or allele frequency distributions between patients and controls for codons 10, 25, and 263 and for -509 and -800 single nucleotide polymorphisms of the TGF-beta1 gene. These results suggest that TGF-beta1 plasma levels and common polymorphisms are not associated with a risk of keloid disease and hypertrophic scar formation. This lack of association may be significant in view of the importance attached to the role of TGF-beta1 in dermal scarring. To the authors' knowledge, this is the first report of a case-control association study in keloid disease and hypertrophic scars using any single nucleotide polymorphisms.