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

Authors
 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 
Citation
 LUNG, Vol.191(2) : 199-205, 2013 
Journal Title
 LUNG 
ISSN
 0341-2040 
Issue Date
2013
MeSH
Aged ; Asian Continental Ancestry Group/genetics ; Chi-Square Distribution ; Exons ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Idiopathic Pulmonary Fibrosis/diagnosis ; Idiopathic Pulmonary Fibrosis/ethnology ; Idiopathic Pulmonary Fibrosis/genetics* ; Kaplan-Meier Estimate ; Logistic Models ; Male ; Middle Aged ; Odds Ratio ; Phenotype ; Polymorphism, Single Nucleotide* ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Severity of Illness Index ; Transforming Growth Factor beta1/genetics*
Keywords
Pulmonary fibrosis ; Idiopathic ; Transforming growth factor-β1 ; Polymorphism
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.
Full Text
http://link.springer.com/article/10.1007%2Fs00408-012-9447-z
DOI
10.1007/s00408-012-9447-z
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Young Ae(강영애) ORCID logo https://orcid.org/0000-0002-7783-5271
Kim, Se Kyu(김세규)
Kim, Song Yee(김송이) ORCID logo https://orcid.org/0000-0001-8627-486X
Kim, Young Sam(김영삼) ORCID logo https://orcid.org/0000-0001-9656-8482
Kim, Eun Young(김은영) ORCID logo https://orcid.org/0000-0002-3281-5744
Park, Moo Suk(박무석) ORCID logo https://orcid.org/0000-0003-0820-7615
Park, Byung Hoon(박병훈)
Son, Ji Young(손지영)
Shim, Hyo Sup(심효섭) ORCID logo https://orcid.org/0000-0002-5718-3624
Lim, Ju Eun(임주은)
Chang, Joon(장준) ORCID logo https://orcid.org/0000-0003-4542-6841
Jung, Ji Ye(정지예) ORCID logo https://orcid.org/0000-0003-1589-4142
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87360
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