TGF-β1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity.
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.
Division of Pulmonary, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, 50 Yonseiro, Seodaemun-gu, Seoul, 120-752, Korea.
Ji Young
JY
Son
Song Yee
SY
Kim
Sang Ho
SH
Cho
Hyo Sub
HS
Shim
Ji-Ye
JY
Jung
Eun Young
EY
Kim
Ju Eun
JE
Lim
Byung Hoon
BH
Park
Young Ae
YA
Kang
Young Sam
YS
Kim
Se Kyu
SK
Kim
Joon
J
Chang
Moo Suk
MS
Park
D000368:Aged; D044466:Asian People / Q000235:genetics; D016009:Chi-Square Distribution; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D053208:Kaplan-Meier Estimate; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea / Q000453:epidemiology; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1