PURPOSE: Transforming growth factor-β1 (TGF-β1) is a key cytokine that plays a critical role in the development of idiopathic pulmonary fibrosis (IPF). In this study we have attempted to determine whether the TGF-β1 gene polymorphisms in codon 10 are associated with the development, severity, and progression of IPF in Korean patients.
METHODS: We investigated a single nucleotide polymorphism at exon 1 nucleotide position 29 (T->C) of the TGF-β1 gene. Eight five age- and sex-matched healthy controls and 85 subjects with surgically confirmed IPF were investigated, using polymerase chain reaction and restriction enzyme fragment length polymorphism techniques.
RESULTS: The IPF patients consisted of 55 men and 30 women. The mean age was 63 ± 10 years. With regard to smoking status, 26 of the IPF patients were current-smokers, 17 ex-smokers, and 41 never-smokers. The distribution of genotypes in IPF patients was TT 37 cases (43.53%), TC 32 cases (37.65%), and CC 16 cases (18.82%). It was significantly different from that of the controls (TT 27.1%, TC 56.5%, and CC 16.5%, p=0.0431). The TT genotypes were significantly more common in IPF patients than in the controls. The presence of TT genotypes was significantly associated with disease progression(reduction in FVC), but was not associated with treatment response.
CONCLUSION: In conclusion, this study suggests that TGF-β1 gene polymorphisms in codon 10 may be associated with a predisposition toward the development and severity of IPF. But, larger sample size and comprehensive severity indexes including clinical, radiological, pathological scoring markers are required to confirm genetic association for TGF-β gene polymorphisms and IPF.
CLINICAL IMPLICATIONS: We can use the Codon 10 polymorphisms in the transforming growth factor-β1 gene in order to predict the development and progression of IPF.
DISCLOSURE: Ji-Young Son, No Financial Disclosure Information; No Product/Research Disclosure Information