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Erich M. Sturgis, MD; Kristina R. Dahlstrom, BS; Margaret R. Spitz, MD, MPH; Qingyi Wei, MD, PhD

Arch Otolaryngol Head Neck Surg. 2002;128:1084-1088.

Objective  To determine the effect of the ERCC1 C8092A polymorphism and the ERCC2/XPD G23591A polymorphism on the risk of squamous cell carcinoma of the head and neck (SCCHN).

Design  A hospital-based case-control study.

Subjects  A total of 330 newly diagnosed case subjects with SCCHN and 330 cancer-free control subjects matched on age (± 5 years), sex, smoking status, and alcohol use. All subjects were non-Hispanic whites.

Methods  After informed consent was obtained, blood was drawn for genotyping. The ERCC1 C8092A polymorphism was typed by single-strand conformational polymorphism analysis. The ERCC2/XPD G23591A polymorphism was typed by polymerase chain reaction–based restriction fragment length polymorphism analysis with the enzyme StyI. The ² analysis was used to assess differences in genotype and allele frequencies. Multivariate logistic regression analysis was performed to estimate the risk of SCCHN for individuals having these genotypes after adjustment for age, sex, tobacco smoking, and alcohol use.

Results  The DNA was available and genotyping was ultimately successful for 313 case subjects and 313 control subjects. The ERCC1 8092CC genotype and the ERCC2/XPD 23591A allele were associated with nonsignificantly increased risks of SCCHN: odds ratios, 1.15 (95% confidence interval [CI], 0.84-1.59) and 1.28 (95% CI, 0.93-1.76), respectively, whereas having both risk genotypes was associated with an even higher risk of SCCHN: odds ratio, 1.78 (95% CI, 0.99-3.17). When considering both polymorphisms, we found a significant allele dose effect (P = .04).

Conclusions  These 2 polymorphisms may contribute to the risk of SCCHN, but larger studies are needed to confirm their role in SCCHN. Combining common DNA repair gene polymorphisms into models of genetic risk of SCCHN may improve risk estimates.

From the Departments of Head and Neck Surgery (Dr Sturgis) and Epidemiology (Drs Sturgis, Spitz, and Wei and Ms Dahlstrom), The University of Texas M. D. Anderson Cancer Center, Houston.

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