CAJ | 학술논문

目的研究内皮素受体A型基因(EDNRA)和Jun二聚化蛋白-2基因(JDP2)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rs 175646位点的基因型分布均符合哈迪-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JDP2基因rs741846、rs175646位点则与中国汉族人颅内动脉瘤的发病不相关.
목적 연구내피소수체A형기인(EDNRA)화Jun이취화단백-2기인(JDP2)기인단핵감산다태성(SNP)위점여중국한족인군산발로내동맥류적상관성.방법 수집사천성인민의원신경외과자2008년지2012년수치적288례로내동맥류환자화576례정상인적외주혈DNA양본,채용병례대조관련연구방법,급통과SnapShot단감기연신법분석,선취EDNRA기인상유rs6842241、rs6841581위점화JDP2기인rs741846、rs175646위점,분석기여로내동맥류적상관성.결과 EDNRA기인rs6842241화rs6841581위점급JDP2기인rs741846화rs 175646위점적기인형분포균부합합적-온백격(Hardy-Weinberg)평형(P＞0.05).rs6842241 (P=0.000)、rs6841581 (P=0.000)등위기인빈솔재로내동맥류조여대조조지간차이유통계학의의,이rs741846 (P=0.156)、rs175646(P=0.223)등위기인빈솔재로내동맥류조여대조조지간차이무통계학의의(P＞0.05).Haploview단체형분석발현,rs6842241화rs6841581위우동일개련쇄불평형구역,기단체형CG、AA화AG재로내동맥류조여대조조상비빈솔경고,차이구유통계학의의(P=0.000,P=0.000,P=0.009).결론 EDNRA기인상유rs6842241、rs6841581위점여중국한족인로내동맥류발병상관,이JDP2기인rs741846、rs175646위점칙여중국한족인로내동맥류적발병불상관.
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 Han population.Methods Genomic DNA was collected fiom 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 ofⅠA among the Han Chinese population.