TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity

Ji Young Son, Song Yee Kim, Sang Ho Cho, Hyo Sub Shim, 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

Research output: Contribution to journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)199-205
Number of pages7
JournalLung
Volume191
Issue number2
DOIs
Publication statusPublished - 2013 Apr 1

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Idiopathic Pulmonary Fibrosis
Transforming Growth Factors
Lung Diseases
Genotype
Genes
Restriction Fragment Length Polymorphisms
Single Nucleotide Polymorphism
Exons
Nucleotides
Odds Ratio
Confidence Intervals
Cytokines
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Pulmonary and Respiratory Medicine

Cite this

Son, J. Y., Kim, S. Y., Cho, S. H., Shim, H. S., Jung, J. Y., Kim, E. Y., ... Park, M. S. (2013). TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity. Lung, 191(2), 199-205. https://doi.org/10.1007/s00408-012-9447-z
Son, Ji Young ; Kim, Song Yee ; Cho, Sang Ho ; Shim, Hyo Sub ; Jung, Ji Ye ; Kim, Eun Young ; Lim, Ju Eun ; Park, Byung Hoon ; Kang, Young Ae ; Kim, Young Sam ; Kim, Se Kyu ; Chang, Joon ; Park, Moo Suk. / TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity. In: Lung. 2013 ; Vol. 191, No. 2. pp. 199-205.
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title = "TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity",
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.",
author = "Son, {Ji Young} and Kim, {Song Yee} and Cho, {Sang Ho} and Shim, {Hyo Sub} and Jung, {Ji Ye} and Kim, {Eun Young} and Lim, {Ju Eun} and Park, {Byung Hoon} and Kang, {Young Ae} and Kim, {Young Sam} and Kim, {Se Kyu} and Joon Chang and Park, {Moo Suk}",
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language = "English",
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Son, JY, Kim, SY, Cho, SH, Shim, HS, Jung, JY, Kim, EY, Lim, JE, Park, BH, Kang, YA, Kim, YS, Kim, SK, Chang, J & Park, MS 2013, 'TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity', Lung, vol. 191, no. 2, pp. 199-205. https://doi.org/10.1007/s00408-012-9447-z

TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity. / Son, Ji Young; Kim, Song Yee; Cho, Sang Ho; Shim, Hyo Sub; Jung, Ji Ye; Kim, Eun Young; Lim, Ju Eun; Park, Byung Hoon; Kang, Young Ae; Kim, Young Sam; Kim, Se Kyu; Chang, Joon; Park, Moo Suk.

In: Lung, Vol. 191, No. 2, 01.04.2013, p. 199-205.

Research output: Contribution to journalArticle

TY - JOUR

T1 - TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity

AU - Son, Ji Young

AU - Kim, Song Yee

AU - Cho, Sang Ho

AU - Shim, Hyo Sub

AU - Jung, Ji Ye

AU - Kim, Eun Young

AU - Lim, Ju Eun

AU - Park, Byung Hoon

AU - Kang, Young Ae

AU - Kim, Young Sam

AU - Kim, Se Kyu

AU - Chang, Joon

AU - Park, Moo Suk

PY - 2013/4/1

Y1 - 2013/4/1

N2 - 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.

AB - 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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SN - 0341-2040

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