Carcinogenesis, Teratogenesis & Mutagenesis ›› 2010, Vol. 22 ›› Issue (4): 265-270.doi: 10.3969/j.issn.1004-616x.2010.04.004

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Association between single nucleotide polymorphisms in human POLE1 and susceptibility to lung cancer

FAN Zu-peng1;PENG Qun-xin2;GAO Ge1;WU Wen-ting1;QIAN Ji1;CHEN Hong-yan1   

  1. 1. State Key Laboratory of Genetic Engineering, The Institute of Genetics, School of Life Science, Fudan University, Shanghai 200433; 2. Department of Clinical Laboratories, The First Affiliated Hospital of Suzhou University, Suzhou 215006, Jiangsu, China
  • Received:2010-01-27 Revised:2010-05-13 Online:2010-07-30 Published:2010-07-30
  • Contact: QIAN Ji

Abstract: OBJECTIVE: To assess the association between the POLE1 SNPs and lung cancer susceptibility. METHODS: The genotypes and allele frequencies of 5 SNPs(rs5745047, rs5744962, rs5744873,rs5744738,rs4883545) of POLE1 gene were calculated and analyzed in 462 histologically confirmed lung cancer cases and 466 cancer-free controls in a Chinese Han population. RESULTS: People with rs5744738 A/A genotype had a decreased lung cancer risk of 0.47 times (95%CI:0.25-0.91), 0.28 times in the age group of over 60 (95%CI:0.09-0.91), and 0.42 times in non-family cancer history group (95%CI:0.19-0.90). The joint effect analysis showed that G/G or G/A carriers had a significant rise in lung cancer risk with increasing smoking. The rs5744962 C allele non-smoking carriers had an 1.75 folds lung cancer risk (95%CI: 1.02-3.00). CONCLUSION: The population with homologous mutations of rs5744738, rs4883545 and rs5744873 showed significant decline in lung cancer risk, while the non-smoking carriers of rs5744962 and rs5745047 mutation allele had an increased lung cancer risk.

Key words: lung cancer, association study, single nucleotide polymorphisms, susceptibility, POLE1

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