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Cancer Epidemiology, Biomarkers & Prevention
Cancer Epidemiology, Biomarkers & Prevention
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Polymorphisms in Telomere Maintenance Genes and Risk of Lung Cancer

Jin Eun Choi, Hyo-Gyoung Kang, Jin Sung Jang, Yi Young Choi, Min Jung Kim, Jong Sik Kim, Hyo-Sung Jeon, Won Kee Lee, Sung Ick Cha, Chang Ho Kim, Sin Kam, Tae Hoon Jung and Jae Yong Park
Jin Eun Choi
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Hyo-Gyoung Kang
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Jin Sung Jang
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Yi Young Choi
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Min Jung Kim
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Jong Sik Kim
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Hyo-Sung Jeon
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Won Kee Lee
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Sung Ick Cha
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Chang Ho Kim
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Sin Kam
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Tae Hoon Jung
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Jae Yong Park
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DOI: 10.1158/1055-9965.EPI-09-0323 Published October 2009
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Abstract

This study was conducted to comprehensively evaluate the associations between polymorphisms in telomere maintenance genes (TERT, TRF1, TNKS1, TRF2, RAP1, and POT1) and lung cancer risk. We captured 35 polymorphisms in the genes and determined their frequencies in 27 healthy Koreans. Ten haplotype-tagging polymorphisms were examined in a case-control study that consisted of 720 lung cancer patients and 720 healthy controls. The TERT rs2735940 g.C > T and rs2736098 g.G > A, and TNKS1 rs6985140 g.A > G were significantly associated with the risk of lung cancer. In the haplotype analysis, the TERT rs2735940T/rs2736098A haplotype (ht4) was associated with a significantly increased risk of lung cancer compared with the rs2735940C/rs2736098G haplotype (adjusted odds ratio, 1.26; 95% confidence interval, 1.07-1.50; P = 0.008). When the TERT ht4 and TNKS1 rs6985140G as risk alleles, the risk of lung cancer increased in a dose-dependent manner as the number of risk alleles increased (Ptrend < 0.001). Subjects with two to four risk alleles were at a significantly increased risk of lung cancer (adjusted odds ratio, 1.67; 95% confidence interval, 1.23-2.27; P = 0.001) compared with subjects with zero risk allele. These findings suggest that genetic variants in the TERT and TNKS1 genes contribute to genetic susceptibility to lung cancer. (Cancer Epidemiol Biomarkers Prev 2009;18(10):2773–81)

  • Genetic Susceptibility
  • Lung Cancer
  • Polymorphism
  • Telomere

Footnotes

  • Grant support:National R&D Program for Cancer Control Ministry of Health & Welfare, Republic of Korea (0720550-2), and in part by the Brain Korea 21 Project in 2006.

  • Note: Supplementary data for this article are available at Cancer Epidemiology, Biomarkers & Prevention Online (http://cebp.aacrjournals.org/).

  • ↵5http://www.ncbi.nlm.nih.gov/SNP

  • ↵6http://broad.mit.edu/mpg/haploview

    • Received April 7, 2009.
    • Revision received July 14, 2009.
    • Accepted August 10, 2009.
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Cancer Epidemiology Biomarkers & Prevention: 18 (10)
October 2009
Volume 18, Issue 10
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Polymorphisms in Telomere Maintenance Genes and Risk of Lung Cancer
Jin Eun Choi, Hyo-Gyoung Kang, Jin Sung Jang, Yi Young Choi, Min Jung Kim, Jong Sik Kim, Hyo-Sung Jeon, Won Kee Lee, Sung Ick Cha, Chang Ho Kim, Sin Kam, Tae Hoon Jung and Jae Yong Park
Cancer Epidemiol Biomarkers Prev October 1 2009 (18) (10) 2773-2781; DOI: 10.1158/1055-9965.EPI-09-0323

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Polymorphisms in Telomere Maintenance Genes and Risk of Lung Cancer
Jin Eun Choi, Hyo-Gyoung Kang, Jin Sung Jang, Yi Young Choi, Min Jung Kim, Jong Sik Kim, Hyo-Sung Jeon, Won Kee Lee, Sung Ick Cha, Chang Ho Kim, Sin Kam, Tae Hoon Jung and Jae Yong Park
Cancer Epidemiol Biomarkers Prev October 1 2009 (18) (10) 2773-2781; DOI: 10.1158/1055-9965.EPI-09-0323
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