Background: The enzyme uridine diphospho glucuronosyltansferase 2B17 (UGT2B17) glucuronidates several endogenous and exogenous compounds, including carcinogens from tobacco smoke like 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanl (NNAL). UGT2B17 shows a remarkable copy number variation (CNV) and an association between deletion genotype and increased risk of lung adenocarcinoma in women has been previously reported.
Methods: We investigated the UGT2B17 CNV by PCR in 453 Austrian lung cancer patients and in 449 healthy donors and analyzed the impact on lung cancer susceptibility and outcome.
Results: Copy numbers of UGT2B17 were 44.4% (+/+), 42.2% (+/-) and 13.5% (-/-) in lung cancer patients and 43.0% (+/+), 46.3% (+/-) and 10.7% (-/-) among healthy donors. The null genotype was not significantly more frequent among women with adenocarcinoma compared to healthy women (p=0.59). There was no association with overall survival (p=0.622) and no significant sex-associated (p=0.423) or histology-related impact on development of lung cancer.
Conclusion: UGT2B17 deletion genotype was not associated with a significant risk for lung cancer development or outcome in our Central European patient cohort. Our study indicates that UGT2B17 is not a crucial factor in lung carcinogenesis among Caucasians and shows the importance of investigating such markers in large cohorts from different populations.
Keywords: Cancer risk; Cancer susceptibility genes; Copy number variation; Lung cancer; Polymorphisms in carcinogen metabolism; UGT2B17.
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