扩增子测序检测SNP位点与子宫内膜异位症的发病风险

摘要

Objective:To explore the feasibility of detecting SNP polymorphism in diagnosis of endometriosis by using blood.Methods:We collected 66 cases of endometriosis and 34 cases of control subjects.The endometrial tissues were used to examine the pathological changes by HE staining.DNA was extracted from blood and used for the construction of library.Detection of SNPs was performed through Amplicon Sequencing.Results:7p15.2 (rs12700667) (p =0.170 × 10-10,OR =1.26) 、CDKN2BAS intron 16 of the gene rs10965235 (p =0.35 × 10-11,OR =1.39) and WNT4 gene rs16826658 (p =0.110 × 10-9,OR =1.18) were significantly different among the 21 selected SNPs between the endometriosis group and the control group.Conclusions:The polymorphisms of 7p15.2 (rs12700667),WNT4(rs16826658) and CDKN2BAS(rs10965235) are associated with the risk of endometriosis.%目的:探索外周血单核苷酸多态性(SNP)多态位点的检测与子宫内膜异位症(简称内异症)的发病风险的关系.方法:选择内异症患者66例,对照组34例,采集受试者子宫内膜组织做病理活检HE染色;取外周血,提取DNA,构建文库,按照筛选出的SNP位点进行扩增子测序检测.结果:在筛选出的21个位点中,7p15.2(rs12700667)(p=0.170×10-10,OR=1.26)、CDKN2BAS基因16号内含子内的rs10965235(p =0.35×1O-11,OR=1.39)、WNT4的rs16826658 (p =0.110×10-9,OR=1.18)的SNP在内异症患者与对照组中比较,差异有统计学意义.结论:外周血样本SNP位点7p15.2 (rs12700667)、WNT4(rs16826658)、CDKN2BAS(rs10965235)可能与内异症的发病风险有关.