目的:探讨新疆哈萨克族、汉族食管癌患者hCHK2基因rs2278022、rs2602431和rs29700773个tagSNPs位点及其单体型与食管癌易感性的关系。方法:以聚合酶链式反应-连接酶检测反应(PCR-LDR)技术,分析239例食管癌患者(其中哈族132例,汉族107例)和作为对照的513例非食管癌患者(其中哈族309例,汉族204例)hCHK2基因rs2278022、rs2602431和rs29700773个tagSNPs位点基因型的分布;利用SHEsis软件分析其构成的单体型在病例组和对照组中的分布频率,比较基因型和单体型在病例组和对照组间的分布差异。结果:在哈族和汉族人群中,hCHK2基因rs2278022、rs2602431和rs2970077位点基因型和等位基因的频率分布在病例组和对照组间的差异无统计学意义(P均〉0.05),其3个tagSNPs位点及其单体型,在哈族和汉族的病例组与对照组中的频率分布的差异均无统计学意义(P均〉0.05)。结论:hCHK2基因rs2278022、rs2602431和rs2970077等3个tagSNPs位点及其单体型与哈萨克族和汉族食管癌易感性无关。
OBJECTIVE:To determine the association of hCHK2 rs2278022,rs2602431,and rs2970077 polymorphism and haplotypes with the susceptibility of esophageal cancer in Kazakh and Han nationality in Xinjiang Uygur Autonomous Region.METHODS:A molecular epidemiology method was carried out of 239 cases of esophageal cancer(132 Kazakh nationality,107 Han nationality)and 513 controls(309 Kazakh nationality,204 Han nationality)in Xinjiang area.The polymorphism of hCHK2 gene at rs2278022,rs2602431 and rs2970077 position was analyzed by polymerase chain reaction-ligase detection reaction(PCR-LDR)methods.Haplotypes were estimated by the SHEsis software.The haplotype distribution statistical differences of the genotype and haplotype frequencies between the case group and the control group were estimated.RESULTS:No significant difference was observed in the frequency of hCHK2 gene at rs2278022,rs2602431 and rs2970077 position genotypes and allele genes between the cases and controls in Kazakh and Han nationality(P〉0.05).In Kazakh and Han nationality,the distribution of haplotypes was not significantly different between esophageal cancer cases and controls(P〉0.05);CONCLUSION:The polymorphism of hCHK2 gene at rs2278022,rs2602431 and rs2970077 position and haplotypes are unlikely to be associated with the susceptibility to esophageal cancer in Kazakh and Han nationality.