S-Space College of Medicine/School of Medicine (의과대학/대학원) Preventive Medicine (예방의학전공) Journal Papers (저널논문_예방의학전공)
Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk
- Kim, Jin Hee; Kim, Heon; Lee, Kye Young; Choe, Kang-Hyeon; Ryu, Jeong-Seon; Yoon, Ho Il; Sung, Sook Whan; Yoo, Keun-Young; Hong, Yun-Chul
- Issue Date
- Oxford University Press
- Hum Mol Genet. 2006 Apr 1;15(7):1181-6. Epub 2006 Feb 23.
- Aged; Asian Continental Ancestry Group; Ataxia Telangiectasia/*genetics/metabolism; Case-Control Studies; Evaluation Studies as Topic; Female; Genotype; Haplotypes; Humans; Lung Neoplasms/*metabolism; Male; Middle Aged; *Polymorphism, Genetic; Risk Factors
- The ataxia telangiectasia mutated (ATM) gene is known to be activated by DNA damage and involved in cell cycle arrest, apoptosis and DNA repair. Therefore, ATM gene polymorphisms may act as important factors predicting individual susceptibility to lung cancer. To evaluate the role of ATM gene polymorphisms in lung cancer development, genotypes of the ATM polymorphisms, -4518A>G, IVS21-77C>T, IVS61-55T>C, and IVS62+60G>A, were determined in 616 lung cancer patients and 616 cancer-free controls. When the effects of selected ATM genotypes were evaluated separately, only one ATM genotype (IVS62+60G>A) showed an association with lung cancer risk. Subjects with the A allele at the site (IVS62+60G>A) have significantly higher risk of lung cancer than those with the G allele [odds ratio (OR)=1.6, 95% confidence interval (CI) 1.1-2.1]. When the haplotypes of four ATM single nucleotide polymorphism sites (-4518A>G, IVS21-77C>T, IVS61-55T>C and IVS62+60G>A) were studied, the ATTA haplotype showed significantly increased risk of lung cancer compared with the GCCA haplotype, the most common haplotype (OR=7.6, 95% CI 1.7-33.5). Furthermore, subjects with the (NN)TA haplotype showed highly significant and increased risk of lung cancer when compared with those without the (NN)TA haplotype (OR=13.2, 95% CI 3.1-56.1). Therefore, our results suggest that polymorphisms or haplotypes of the ATM gene play an important role in the development of lung cancer.
- 0964-6906 (Print)
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