Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population

Respirology. 2012 May;17(4):699-706. doi: 10.1111/j.1440-1843.2012.02165.x.


Background and objective: Genome-wide association studies (GWAS) have identified the three chromosomal regions, 5p15, 6p21 and 15q25, as being associated with lung cancer risk in European populations. This study was performed to confirm these associations in Korean patients with lung cancer.

Methods: The genotypes at rs2736100, rs402710, rs401681 and rs31489 at 5p15, rs9295740 at 6p22, which is in extensive linkage disequilibrium with the 6p21 region, as well as rs2036534 and rs6495309 at 15q25, were determined in 1094 patients with lung cancer and 1100 healthy control subjects, who were frequency matched for age and gender.

Results: The single-nucleotide polymorphisms (SNP) at 5p15 (rs2736100, adjusted odds ratio [aOR] 1.32, 95% confidence interval [CI] 1.03-1.67, P = 0.025; rs402710, aOR 0.82, 95% CI 0.69-0.98, P = 0.025; rs401681, aOR 0.82, 95% CI 0.69-0.98, P = 0.026) and at 15q25 (rs2036534, aOR 0.75, 95% CI 0.61-0.93, P = 0.01; rs6495309, aOR 0.81, 95% CI 0.65-1.00, P = 0.052) were significantly associated with lung cancer risk. The magnitude of the effect was similar to that reported in previous studies, and the association was in the same direction. The effect of SNP in the 5p15 region on the risk of lung cancer was significant only for adenocarcinoma. The two SNP in the 15q25 region were significantly associated with lung cancer risk in ever-smokers and in patients with squamous-cell carcinoma. However, there was no association between the SNP at 6p22 and lung cancer risk.

Conclusions: The association between SNP in the 5p15 and 15q25 regions and the risk of lung cancer was confirmed in a Korean population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / ethnology
  • Adenocarcinoma / genetics*
  • Asians / genetics*
  • Carcinoma, Squamous Cell / ethnology
  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • Genetic Predisposition to Disease / ethnology*
  • Genome-Wide Association Study*
  • Humans
  • Linkage Disequilibrium
  • Lung Neoplasms / ethnology
  • Lung Neoplasms / genetics*
  • Polymorphism, Single Nucleotide*
  • Reproducibility of Results
  • Republic of Korea
  • Small Cell Lung Carcinoma / ethnology
  • Small Cell Lung Carcinoma / genetics*