汉族人中可溶性环氧化物酶2基因多态性与颅内动脉瘤的关系  

Relationship between soluble epoxide hydrolase 2 gene polymorphism and intracranial aneurysm in Han nationality

作　　者：沙龙金[1,2] 张国忠[2] 冯文峰[2] 漆松涛[1] 

机构地区：[1]南方医科大学南方医院神经外科,广东广州510515 [2]东华医院神经外科,广东东莞523110

出　　处：《临床荟萃》2014年第5期505-508,共4页Clinical Focus

摘　　要：目的对汉族人颅内动脉瘤与可溶性环氧化物酶2(EPHX2)基因多态性二者之间的关系进行研究。方法选取颅内动脉瘤患者221例为观察组,同期在院就诊的无颅内动脉瘤患者238例为对照组,通过直接聚合酶链反应(PCR)产物测序以及PCR对两组患者EPHX2基因进行检测,并就其rs2291635、rs751141两个多态性位点各自基因型频率进行对比分析。结果在EPHX2基因位点rs751141多态性基因型分布方面,观察组患者中女性C等位基因及CC基因型频率占总体分别为83.3%(180/216)及71.3%(77/108),显著性高于对照组75.8%(182/240)及58.3%(70/120)(均P<0.05)。两组患者rs751141等位基因基因型频率在不分性别以及男性患者中的分布差异无统计学意义(均P>0.05);两组患者EPHX2基因位点rs2291635在不分性别、女性、男性中的基因频率同样无统计学意义(均P>0.05)。结论汉族人群体中女性颅内动脉瘤的发生可能与rs751141基因位点所具有的异质性存在关联性。Objective To study the relationship of soluble epoxide hydrolase 2 （EPHX2 ）gene polymorphism and intracranial aneurysm in Han nationality.Methods A total of 221 intracranial aneurysm patients were included as the subjects of this study（observation group）.Another 238 patients without intracranial aneurysm（reference group） diagnosed in Nanfang Hospital,Southern Medical University in the same period were taken.Direct PCR product sequencing and PCR were used to detect the EPHX2 gene of patients in two groups.And contrastive analysis was made for the genotype frequency of rs2291 635 and rs75 1 141 two polymorphic sites.Results As for the rs75 1 141 polymorphic genotype distribution at EPHX2 gene locus,the C allele and CC genotype frequency of female patients in observation group accounted for 83.3%（180/21 6 ）and 71.3%（77/108）,respectively,which were significantly higher than those of control group,75.8% （182/240）,58.3% （70/120）（P 〈 0.05 ）.The distribution of rs75 1 141 genotype frequency among all the patients and male patients of two groups showed no significant difference （all P ＆gt;0.05）.The distribution of rs2291 635 genotype frequency at EPHX2 gene locus among all the patients,female,and male patients showed no significant difference （all P 〉0.05）.Conclusion The occurrence of intracranial aneurysm among females of Han nationality may be associated with the heterogeneity of rs75 1 141 gene locus.

关 键 词：颅内动脉瘤 基因表达调控 酶学 聚合酶链反应 单核苷酸多态性 

分 类 号：R739.41[医药卫生—肿瘤]