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TGF-β1 T869C Polymorphism May Affect Susceptibility to Idiopathic Pulmonary Fibrosis and Disease Severity

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Abstract

Background

Transforming growth factor-β1 (TGF-β1) is a key cytokine that plays a critical role in idiopathic pulmonary fibrosis (IPF). The genotypes of T869C polymorphism may be associated with the susceptibility to fibrotic lung disease.

Methods

We investigated a single-nucleotide polymorphism at exon 1 nucleotide position 29 (T → C) of the TGF-β1 gene. Eighty-five 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 61 ± 8 years. Fifty-one (60 %) of the 85 IPF patients were smokers and 34 were nonsmokers. The distribution of genotypes between IPF patients and controls was significantly different (IPF: TT 43.5 % and TC or CC 56.5 %; controls: TT 27.1 % and TC or CC 72.9 %, p = 0.037). TT genotype was significantly associated with decreased PaO2 and increased D(A–a)O2 upon initial diagnosis (p = 0.006 and 0.009, respectively). There was a positive association between TT genotype and IPF development (odds ratio [OR] = 2.1, 95 % confidence interval [CI] = 1.1–4.0, p = 0.028).

Conclusions

This study suggests that the TGF-β1 gene T869C polymorphism may affect susceptibility to IPF in Koreans. Larger studies are required to confirm the genetic association of TGF-β1 gene polymorphism and IPF.

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Acknowledgments

This study was supported by a faculty research Grant (6-2005-0010) from the Department of Internal Medicine, Yonsei University, College of Medicine.

Conflict of interest

The authors have no conflicts of interest to declare.

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Authors and Affiliations

  1. Division of Pulmonary, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, 50 Yonseiro, Seodaemun-gu, Seoul, 120-752, Korea

    Ji Young Son, Song Yee Kim, Ji-Ye Jung, Eun Young Kim, Ju Eun Lim, Byung Hoon Park, Young Ae Kang, Young Sam Kim, Se Kyu Kim, Joon Chang & Moo Suk Park

  2. Department of Pathology, Bundang CHA Hospital, CHA University, Seongnam, 463-712, Korea

    Sang Ho Cho

  3. The Institute of Chest Diseases, Yonsei University College of Medicine, Seoul, Korea

    Young Sam Kim, Se Kyu Kim, Joon Chang & Moo Suk Park

  4. Department of Pathology, Severance Hospital, Yonsei University College of Medicine, 50 Yonseiro, Seodaemun-gu, Seoul, 120-752, Korea

    Hyo Sub Shim

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  1. Ji Young Son
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Correspondence to Moo Suk Park.

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Son, J.Y., Kim, S.Y., Cho, S.H. et al. TGF-β1 T869C Polymorphism May Affect Susceptibility to Idiopathic Pulmonary Fibrosis and Disease Severity. Lung 191, 199–205 (2013). https://doi.org/10.1007/s00408-012-9447-z

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  • DOI: https://doi.org/10.1007/s00408-012-9447-z

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