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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 ; Moo Suk Park ; Joon Chang ; Se Kyu Kim ; Young Sam Kim ; Young Ae Kang ; Byung Hoon Park ; Ju Eun Lim ; Eun Young Kim ; Ji-Ye Jung ; Hyo Sub Shim ; Sang Ho Cho 
Citation
 Lung, Vol.191(2) : 199~205, 2013 
Journal Title
 Lung 
ISSN
 0341-2040 
Issue Date
2013
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/87360
DOI
10.1007/s00408-012-9447-z
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Pathology
1. 연구논문 > 1. College of Medicine > Dept. of Internal Medicine
Yonsei Authors
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Link
 http://link.springer.com/article/10.1007%2Fs00408-012-9447-z
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