EDNRA和JDP2基因与中国汉族人群散发颅内动脉瘤关联分析  

Association of EDNRA and JDP2 genes with sporadic intracraulal aneurysm in Chinese Han Population

作　　者：李晓波[1] 吴波[2] 曾义[2] 李志立[2] 黄光富[2] 杨正林[1] 

机构地区：[1]泸州医学院临床医学院,泸州646000 [2]四川省人民医院神经外科,成都610072

出　　处：《中华神经医学杂志》2014年第4期383-387,共5页Chinese Journal of Neuromedicine

摘　　要：目的研究内皮素受体A型基因（EDNRA）和Jun二聚化蛋白-2基因（JDe2）基因单核苷酸多态性（SNP）位点与中国汉族人群散发颅内动脉瘤的相关性。方法收集四川省人民医院神经外科自2008年至2012年收治的288例颅内动脉瘤患者和576例正常人的外周血DNA样本，采用病例对照关联研究方法，及通过SnapShot单碱基延伸法分析，选取EDNRA基因上游rs6842241、rs6841581位点和JDP2基因rs741846、rs175646位点，分析其与颅内动脉瘤的相关性。结果EDNRA基因rs6842241和rs6841581位点及JDP2基因rs741846和rs175646位点的基因型分布均符合哈迪一温伯格（Hardy-Weinberg）平衡（P〉0．05）。rs6842241（P=0．000）、rs6841581（P=0．000）等位基因频率在颅内动脉瘤组与对照组之间差异有统计学意义，而rs741846（P=0．156）、rs175646（P=-0．223）等位基因频率在颅内动脉瘤组与对照组之间差异无统计学意义（P〉0．05）。Haploview单体型分析发现，rs6842241和rs6841581位于同一个连锁不平衡区域，其单体型CG、AA和AG在颅内动脉瘤组与对照组相比频率更高，差异具有统计学意义（P=-0．000，P=-0．000，P=0．009）。结论EDNRA基因上游rs6842241、rs6841581位点与中国汉族人颅内动脉瘤发病相关，而归忍基因rs741846、rs175646位点则与中国汉族人颅内动脉瘤的发病不相关。Objective To investigate the associations of single nucleotide polymorphism （SNP） locus of endothelin receptor type A （EDNRA） and Jun dimerization protein 2 （JDP2） genes with sporadic intractranial aneurysm （IA） in Chinese Hart population. Methods Genomic DNA was collected from 288 patients with IA and 576 healthy controls, admitted to our hospital from 2008 to 2012. The SNPs in near EDNRA gene （rs6842241 and rs6841581） and JDP2 gene （rs741846 and rs175646） were analyzed by using the SnapShot method; and their relations with IA were analyzed. Results All the genotype frequencies of these SNPs were in Hardy-Weinberg equilibrium （HWE） （P〉0.05）. There were significant differences in genotypes and allele frequency distribution of near EDNRA gene between IA patients and controls （P=0.000 for rs6842241 and rs6841581）, while no significant differences were found in the distributions of rs741846 and rs175646 in JDP2 gene between IA patients and controls （P=0.156 and 0.223）. Haploview haplotyping showed that rs6842241 and rs6841581 located in a linkage disequilibrium, whose haplotypes （CG, AA and AG） were significantly different between the two groups （P=0.000, P=0.000 and P=-0.009）. Conclusion The rs6842241 and rs6841581 loci near EDNRA gene contribute to an increased risk oflA among the Han Chinese population.

关 键 词：颅内动脉瘤 内皮素受体A型基因 Jun二聚化蛋白-2基因 单核苷酸多态性 

分 类 号：R739.41[医药卫生—肿瘤]