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Variation_91720拷贝数变异与食管鳞癌易感性的关联研究

, PP. 2437-2440

Keywords: 食管鳞状细胞癌,拷贝数变异,Variation_,易感性

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Abstract:

目的探讨PIK3CA基因中Variation_91720拷贝数变异(copynumbervariation,CNV)与中国西南地区汉族人群食管鳞状细胞癌(esophagealsquamouscellcarcinoma,ESCC)易感性的关联。方法选取149例中国西南地区ESCC患者和205例年龄、性别相匹配的健康人群作为研究对象,采用基于TaqMan实时定量PCR检测外周血中Variation_91720拷贝数;基于SYBRGreen实时定量PCR检测34例ESCC患者癌及癌旁组织中PIK3CA基因mRNA表达量。结果Variation_91720拷贝数在ESCC患者和对照人群中分布有显著差异(P<0.01),ESCC患者中Variation_91720拷贝数减少频率显著高于对照人群(P<0.01,OR=5.617,95%CI=2.750~11.470),是ESCC发生的危险因素;Variation_91720拷贝数增加显著低于对照人群(P=0.028,OR=0.419,95%CI=0.193~0.911),是ESCC发生的保护因素。34例ESCC患者中癌组织的PIK3CA基因mRNA表达量显著高于癌旁组织(P=0.038),基因表达差异与相应的外周血基因组Variation_91720拷贝数变异之间无显著统计学差异(P=0.066)。结论Variation_91720拷贝数变异与中国西南地区汉族人群ESCC的易感性相关联;其拷贝数减少与增加ESCC的易感性相关而其拷贝数增加与降低ESCC的易感性相关,可能成为ESCC的高危人群筛选和早期诊断生物标记物。

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