Association of NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T polymorphism with esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population

摘要: NAD(P)H: quinone oxidoreductase 1 (NQO1) is an antioxidant enzyme, important in the detoxification of environmental carcinogens. A single base substitution (C --> T) polymorphism at nucleotide 609 (null-allele) NQO1 gene impairs stability and function protein. To investigate association this with susceptibility to esophageal squamous cell carcinoma (ESCC), C609T genotypes were determined by PCR-RFLP analysis 450 patients ESCC (257 German Caucasians 193 northern Chinese) 393 unrelated healthy controls (252 141 Chinese). Additionally, protein expression was immunohistochemistry a subset 74 (50 German, 24 significant difference genotype distribution observed between Caucasian (C/C, 73.4%; C/T, 25.0%; T/T, 1.6%) Chinese 34.0%; 49.7%; 16.3%) (chi(2) = 68.40, P < 0.001). The T/T significantly increased risk for developing both subjects (OR 4.62, 95% CI 1.54-13.86) 1.81, 1.04-3.15), compared combined C/C C/T genotypes. In subjects, pronounced family history upper gastrointestinal cancers 2.18, 1.14-4.17). Immunohistochemical showed 53 carcinomas, whereas 21 carcinomas negative. Negativity correlated strongly genotype, being present 8.6% cases C/C, 22.2% 100% 16.60, summary, genetically distinct populations makes strong argument its importance carcinogenesis population.