Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility

Objectives/Hypothesis: The ataxia-telangiectasia mutated (ATM) is thought to play a major role in the caretaking of the overall genome stability, and its mutations have been implicated in human cancers. However, the role of ATM polymorphisms in oral carcinogenesis is largely unexplored. Thus, the polymorphic variants of ATM were first investigated for their association with oral cancer susceptibility. Study Design: In this hospital-based, case-control study, associations of seven ATM single nucleotide polymorphisms with oral cancer risk in a Taiwanese population were investigated. Methods: A total of 620 patients with oral cancer and 620 healthy controls were genotyped and analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. Results: There were significant differences between oral cancer and control groups in the distributions of their genotypes (P = 3.71E-6) and allelic frequencies (P = 5.09E-6) in the ATM rs189037 polymorphisms. In the other six polymorphisms, there was no differential distribution between both groups. There are synergistic joint interactions of ATM genotyping with smoking, alcohol drinking, and betel quid chewing. Conclusions: The ATM rs189037 A allele is correlated with oral cancer susceptibility, and this polymorphism may be a useful marker for oral cancer prevention and early detection.