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.

• 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
• Journal: Lung (Lung) Vol. 191 Issue 2 Pg. 199-205 (Apr 2013) ISSN: 1432-1750 [Electronic] United States
• PMID: 23344525 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• TGFB1 protein, human
• Transforming Growth Factor beta1

Topics

• Aged
• Asian People (genetics)
• Chi-Square Distribution
• Exons
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Humans
• Idiopathic Pulmonary Fibrosis (diagnosis, ethnology, 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)