ISSN:
1365-2133
Source:
Blackwell Publishing Journal Backfiles 1879-2005
Topics:
Medicine
Notes:
Background Transforming growth factor (TGF)-β has been shown to be a potent stimulator of collagen production by fibroblasts, and could play a role in the pathogenesis of systemic sclerosis (SSc). Objectives To study the possible involvement of TGF-β1 gene polymorphism in Japanese patients with SSc. Methods Fifty-nine patients with SSc and 110 normal subjects were studied. Genomic DNA was extracted from skin tissues, and was amplified in a thermal cycler, generating a TGF-β1 gene fragment with a size of 294 bp. The T to C transition at T869C (Leu10Pro) and the G to C transition at G915C (Arg25Pro) were identified by digestion with MspA1I and BglI, respectively. Results At T869C (Leu10Pro), the frequency of the C allele in SSc (65·3%) was significantly higher than in normal controls (50·5%) (P 〈 0·01). SSc showed C/C allele 42·4%, C/T 45·8% and T/T 11·2%. Normal controls showed C/C allele 26·4%, C/T 48·2% and T/T 25·5%. The frequency of the C/C allele in SSc was significantly higher than in normal controls, in comparison with the T/T allele (P 〈 0·02), but no significant difference was found between the frequency of the C/C allele vs. the C/T allele. The frequency of the C/C allele showed no significant difference between diffuse and limited SSc. At G915C (Arg25Pro), all the normal controls and SSc patients showed only the G/G allele. These results are different from a previous study in which the frequency of the T/T allele was high in SSc at T869C (Leu10Pro). Conclusions This discrepancy may indicate that Japanese patients with SSc show a different genetic predisposition to TGF-β1.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1046/j.1365-2133.2002.04947.x
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