CYP1A1、GSTM1基因多态性及其联合作用与食管癌的易感性

目的探讨CYP1A1、GSTM1基因多态性及其联合作用与新疆汉族人食管癌易感性的关系。方法采用聚合酶链式反应-连接酶检测反应分析方法检测107例食管癌患者和204例非食管癌患者的CYP1A1(rs1048943、rs4646421和rs4646903)和GSTM1(缺失型和rs2071487)的基因型。结果CYP1A1基因rs1048943位点的等位基因和基因型频率在病例组和对照组之间比较，总体分布差异有统计学意义(χ² =5.52，P=0.019)。与A/A基因型相比，GG+AG基因型可增加食管癌的发病风险(OR=1.79，OR95%CI:1.10~2.92)；GSTM1基因缺失型和非缺失型在病例组和对照组中的分布频率分别为68.69%、31.31%和48.39%、51.61%，在两组间的分布差异有统计学意义(χ²=10.55，P=0.001；OR=2.34，OR95%CI:1.40~3.91)。结论CYP1A1基因rs1048943位点多态性和GSTM1基因缺失型与新疆地区汉族人食管癌易感性有相关性。

CYP1A1, GSTM1 Genetic Polymorphisms and Their Combined Role in Susceptibility of Esophageal Cancer

Objective To investigate the association of polymorphisms of CYP1A1and GSTM1 and their combined role in the risk of susceptibility to esophageal cancer in Han nationality in Xinjiang Province. Methods Polymorphisms of CYP1A1(rs1048943、rs4646421 and rs4646903) and GSTM1(deletion and rs2071487) were genotyped by polymerase chain reaction-ligase detection reaction (PCR-LDR) analysis in107 esophageal cancers and 204 non-esophageal cancers. Results The overall genotype and allelotype distributions of CYP1A1 rs1048943 in cases were significantly different from that in controls(χ² =5.52，P=0.019). The GG+AG genotype significantly increased the risk of developing esophageal cancer compared with AA genotype(OR=1.79，OR95% CI:1.10-2.92). The frequency of GSTM1`s genotype (null and non-null) in cases and controls were 68.69%,31.31%, and 48.39%，51.61%， respectively. A significant difference was observed between cases and controls(χ² =10.55，P=0.001；OR=2.34，OR95%CI:1.40-3.91). Conclusion The polymorphism of CYP1A1 rs1048943 and GSTM1 is likely to be associated with the susceptibility to esophageal cancer of Han nationality in Xinjiang Province.