Abstract
The purpose of this study was to evaluate the associations of CYP1A1 genetic polymorphisms with the risk of developing esophageal cancer (EC). A case-control study was carried out in a Chinese population in which 157 hospital based EC cases and 157 population based healthy controls with 1:1 match by age and sex were included. PCR based restriction fragment length polymorphisms (PCR-RFLP) were used to detect genotypes in case and control groups. For the CYP1A1 Ile/Val polymorphism, comparing with wild genotype Ile/Ile, both the heterozygote genotype Ile/Val and the combined variant genotype Ile/Val+Val/Val increased the risk of esophageal cancer (OR: 2.05, 95%CI: 1.19-3.54, OR: 1.86, 95%CI: 1.11-3.12). No significant association was found between the CYP1A1 MspI polymorphism and EC. According to analysis of combined genotypes, the TC/AG combined genotype which contained both variant alleles of these two polymorphisms increased the risk of developing EC (OR: 2.12, 95%CI: 1.16-3.85). Our results suggested that genetic polymorphisms of CYP1A1 may increase the susceptibility to EC.
Highlights
Esophageal cancer (EC) is one of the most common malignant diseases worldwide and the sixth leading cause of cancer death, with the majority of cases occurring in developing countries (Parkin et al, 2005)
The important phase I enzyme CYP1A1 plays an essential role in the metabolic activation of major classes of procarcinogens such as benzo[a]pyrene, a prototypic polycyclic aromatic hydrocarbon, affecting the metabolism of the environmental carcinogens and Haplotypes Case N (%)
A case-control study with molecular epidemiology methods was used in the present study to analyze the relationship between CYP1A1 polymorphisms and esophageal cancer risk
Summary
Esophageal cancer (EC) is one of the most common malignant diseases worldwide and the sixth leading cause of cancer death, with the majority of cases occurring in developing countries (Parkin et al, 2005). Research showed that risks for EC in different countries or different places were various (Zhuo et al, 1999; Lu et al, 2000; Zhang et al, 2000; Li et al, 2001). The ratio in incidence between high- and low-risk areas could be as great as 500:1 (Xing et al, 2003). The high incidence in special areas suggests that the importance of environmental factors in esophageal cancer is developing (Mao et al, 2011). Only a small part of individuals can develop esophageal cancer under the similar environmental conditions in the highrisk areas, indicating that host susceptibility factors such as the polymorphisms of phase I metabolism enzyme gene CYP1A1, may be risk factors in increasing risk for esophageal cancer
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