A. Hildesheim et al., CYP2E1 GENETIC POLYMORPHISMS AND RISK OF NASOPHARYNGEAL CARCINOMA IN TAIWAN, Journal of the National Cancer Institute, 89(16), 1997, pp. 1207-1212
Background: Nasopharyngeal carcinoma occurs disproportionately among i
ndividuals of Chinese descent. The cytochrome P450 2E1 enzyme (CYP2E1)
is known to activate nitrosamines and other carcinogens that are poss
ibly involved in the development of this disease. Certain alleles of t
he CYP2E1 gene are thought to be more highly expressed than others, an
d their distribution varies between Asian and Caucasian populations. W
e conducted a case-control study to investigate whether such variation
s affect the risk of developing nasopharyngeal cancer. Methods: Three
hundred sixty-four patients with nasopharyngeal carcinoma (96% of 378
eligible patients) and 320 control subjects (86% of 374 eligible subje
cts) were studied. A risk factor questionnaire was administered to par
ticipants to assess factors postulated to be linked to nasopharyngeal
carcinoma, Peripheral blood was obtained from all subjects and DNA was
purified from nucleated cells. A polymerase chain reaction-based rest
riction fragment length polymorphism assay that used the restriction e
nzymes Rsa I and Dra I was used to detect wild-type and variant forms
of the CYP2E1 gene. Results: Individuals homozygous for an allele of t
he CYPSE1 gene that is detected by Rsa I digestion (c2 allele) were fo
und to have an increased risk of nasopharyngeal carcinoma (relative ri
sk [RR] 2.6; 95% confidence interval [CI] 1.2-5.7); this effect was li
mited to nonsmokers (RR = 9.3; 95% CI = 2.7-32) and was not affected b
y alcohol consumption, Conclusions: Our findings suggest that the CYP2
E1 genotype is a determinant of nasopharyngeal carcinoma risk.