Abstract
ObjectivesThe purpose of this study is to explore the relationship between the interactions of CYP2C19 gene polymorphisms and several environmental factors and oesophageal squamous cell carcinoma (OSCC).MethodsIn a case-control study of OSCC patients (n = 350) and healthy controls (n = 350), we investigated the roles of polymorphism in the CYP2C19 gene by the use of polymerase chain reaction - restriction fragment length polymorphism (PCR – RFLP) analysis.ResultsThe CYP2C19*3 AG+AA genotype was significantly more prevalent in OSCC patients (10.0% versus 3.43%; P<0.01). Multiple logistic regression analysis showed drinking (OR: 5.603, 95% CI: 3.431–11.112; P = 0.005) and smoking (OR: 4.341, 95% CI: 3.425–10.241; P = 0.001) was the independent risk factor of OSCC respectively, and there were significant interaction between CYP2C19*3 and drinking (OR: 8.747, 95% CI: 6.321–18.122; P = 0.009).ConclusionsThe CYP2C19*3 polymorphism and OSCC were synergistically and significantly associated in Chinese Han patients.
Highlights
Oesophageal squamous cell carcinoma (OSCC) is a common cancer among people in China [1]
Distribution of the CYP2C19*3 genotype The genotype distribution of CYP2C19*3 did not show any significant difference from Hardy-Weinberg equilibrium (P = 0.47).The frequency of the CYP2C19*3 A allele was significantly higher in OSCC patients than in controls (5.57% versus 1.86%; P = 0.004)
Associations of traditional risk factors with OSCC By univariate analysis, all these environmental factors including smoking, drinking,2 portions/day of fruit and vegetables intake, and excessive smoke inhalation were associated with OSCC, and there were significant interactions between CYP2C19*3 polymorphism and these environmental factors(all P,0.05, table 3)
Summary
Oesophageal squamous cell carcinoma (OSCC) is a common cancer among people in China [1]. Cancer registries established in the 1960s showed extremely high incidence rates of OSCC in China [2]. Known causes of OSCC, most notably tobacco and alcohol consumption could not explain this high incidence [2,3]. It is generally accepted that OSCC is a complex disease resulting from the interaction between genetic and environmental factors [4,5]. Several environmental risk factors such as smoking, alcohol drinking, prolonged use of wood or charcoal as sources of fuel for cooking and heating (resulting in excessive smoke inhalation), have been reported to be associated with OSCC [6]. Recent data imply that the environmental risk factors may be modified by polymorphisms in the carcinogen metabolizing genes i.e. geneenvironment interactions [7]
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