【摘要】 目的:研究MDM2启动子区SNP309和Del1518基因多态性与中国河北省高发区人群食管鳞状细胞癌(esophagealsquamous cell carcinoma,ESCC)和贲门腺癌(gastric cardiac adenocarcinoma,GCA)易感性的关系。方法:应用引物引入限制性内切酶分析-聚合酶链反应(primer-introduced restriction analysis-polymerase chain reaction,PIRA-PCR)方法,分别检测了351例ESCC患者、212例GCA患者和642例健康对照组人群的MDM2启动子区SNP309和Del1518的基因型。应用EH和2LD软件分析两个多态性位点的相互关系。结果:MDM2基因型分布在总体ESCC患者组和健康对照组间无显著性差异(P>0.05),而在总体GCA患者组与健康对照组间存在的差异有统计学意义(P<0.05)。单体型分析显示,MDM2单体型分布在ESCC患者组与健康对照组间差异无统计学意义(P=0.198),而在GCA患者组与健康对照组间有显著性差异(P=0.000)。与SNP309G/Del1518+单体型相比,检出SNP309T/Del1518-单体型组可显著降低GCA的发病风险(OR=0.51,95%CI=0.38~0.70)。结论:MDM2的SNP309和Del1518多态性与ESCC的发病风险可能无关;携带MDM2 SNP309 T等位基因的基因型(G/T与T/T)和携带Del1518-等位基因的基因型(+/-与-/-)可分别降低GCA的发病风险;MDM2 SNP309T/Del1518-单体型组可以降低GCA的发病风险。更多还原

【Abstract】 Objective:To investigate the correlation between the SNP309 and Del1518 polymorphisms in the promoter region of murine double minute 2(MDM2) and genetic susceptibilities of esophageal squamous cell carcinoma(ESCC) and gastric cardiac adenocarcinoma(GCA).Methods:Genotypes of the MDM2 polymorphisms of 563 cancer patients(351 ESCC and 212 GCA) and 642 healthy controls were detected by a primer-introduced restriction analysis-polymerase chain reaction(PIRA-PCR).The combined effects of MDM2 polymorphisms were analyzed by EH and 2LD softwares.Results:Distributions of the MDM2 genotypes in both ESCC patients and healthy controls were not significantly different(P>0.05),however,a significant different distribution between GCA patients and healthy controls was observed(P<0.05).The MDM2 haplotype distributions were not significantly different between ESCC patients and healthy controls(P=0.198).MDM2 haplotype distribution in the GCA patients was also significantly different from that in the healthy controls(P=0.000).Compared with SNP309G/Del1518+ haplotype,SNP309T/Del1518-haplotype significantly decreased the risk of developing GCA(adjusted OR=0.51,95% CI=0.38-0.70).Conclusions:MDM2 polymorphisms may not be associated with susceptibility to ESCC.Individuals with MDM2 SNP309T allelotype(G/T and T/T genotype) and with Del1518-allelotype(+/-and-/-genotype) have significantly lower risk of developing GCA,respectively.Individuals T/Del1518-haplotype have significantly lower risk of developing GCA.更多还原