Single nucleotide polymorphisms of the TGFB1 gene and lung cancer risk in a Korean population

Kyong Hwa Park, Sle Gi Lo Han, Young Mi Whang, Hyo Jung Lee, Young Do Yoo, Jae Won Lee, Sang Won Shin, Yeul Hong Kim

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40 Citations (Scopus)


The present study was conducted to investigate the association between single nucleotide polymorphisms (SNPs) of the transforming growth factor-beta 1 (TGFB1) gene and susceptibility to lung cancer and the clinical effect of the SNPs on lung cancer progression in a Korean population. Two polymorphisms in the promoter region of the TGFB1 (T-1572C, C-509T), and one SNP in codon 10 (T+869C) were determined using a SNaPshot primer extension assay in 194 Korean lung cancer patients and 283 normal controls. The polymorphic allele frequencies of A-1572G, C-509T, and T+869C were similar among lung cancer patients (0.52, 0.47, and 0.47, respectively) and controls (0.54, 0.46, and 0.44, respectively). When the data was stratified for smoking history, patients who smoked heavily and had heterozygous C-509T and T+869C genotypes showed an increased lung cancer risk (odds ratio OR = 3.77, confidence interval 95% CI = 1.25-11.30, P = 0.017; OR = 3.61, 95% CI = 1.21-10.74, P = 0.021 for each), after adjustment for age and sex. When heterozygous and homozygous variants for each SNPs were analyzed together, patients who were smokers and had variant genotypes also showed increased risk compared to the reference group. Further analyses to test the effect of the SNPs on the clinical parameters did not reveal an association of each polymorphic allele to the tumor stage or response to treatment. In addition, DNA fragments containing polymorphic genotype of the promoter region (-509T) showed increased transcriptional activity in luciferase assays using non-small cell lung cancer cell lines. In conclusion, this study suggests that heavy smokers in this Korean population who have specific polymorphic variants, which have been associated with increased transcriptional activity of TGFB1, might be more vulnerable to lung cancer.

Original languageEnglish
Pages (from-to)39-44
Number of pages6
JournalCancer Genetics and Cytogenetics
Issue number1
Publication statusPublished - 2006 Aug

Bibliographical note

Funding Information:
This work was supported by the grant of Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea: 01-PG3-PG6-01GN07-0004. Jae Won Lee and Hyo Jung Lee were supported by Korea Science and Engineering Foundation Grant (R14-2003-002-01002-0). The authors thank Dr. Vy P. Lai for critical review of this manuscript.

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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