白介素18基因启动子区-607C/A多态性与颅内动脉瘤的发病和破裂的关系  

Association of IL-18 Promoter-607C/A Polymorphism and the Incidence of Intracranial Aneurysms and Rupture

作　　者：邱虹[1] 李云超[1] 陈广[1] 于向东[1] 邵德明[1] 阚志生[1] 

机构地区：[1]华北煤炭医学院附属开滦医院神经外科,河北省唐山市063000

出　　处：《中国全科医学》2012年第27期3135-3138,共4页Chinese General Practice

摘　　要：目的分析白介素18(IL-18)基因启动子区-607C/A单核苷酸多态性(SNP)与颅内动脉瘤(IAs)发病和破裂的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)及DNA直接测序方法检测我院和唐山工人医院收治的98例IAs患者(动脉瘤组)和97例非脑血管病患者(对照组)的IL-18基因启动子区SNP位点-607 C/A(rs1946518)的基因型频率和等位基因频率,其中动脉瘤组患者分为破裂组和未破裂组,并分析IL-18基因多态性与IAs发病、破裂的相关关系。结果 -607C/A位点的基因型分布的测量值(171 bp、99 bp、72 bp)与预期值(171 bp)比较,差异无统计学意义(χ2=1.662,P>0.05),符合Hardy-Weinberg遗传平衡规律。动脉瘤组-607位点基因型及等位基因与对照组比较,差异均有统计学意义(P<0.05),其中基因型以CC型最多,其次为AA型和CA型;等位基因以C型多见,动脉瘤组C等位基因的频率高于对照组,差异有统计学意义(P<0.05);CC+CA基因型增加了IAs发生的风险性〔χ2=10.662,P<0.05,OR=0.357,95%CI(0.191,0.669)〕。破裂组-607位点基因型及等位基因与未破裂组比较,差异均有统计学意义(P<0.05),其中基因型以CC型多见,其次为AA和CA型;等位基因以C型多见,破裂组C等位基因的频率高于未破裂组,差异有统计学意义(P<0.05);CC+CA基因型增加了动脉瘤发生破裂的风险性〔χ2=7.286,P<0.05,OR=0.024,95%CI(0.096,0.717)〕。结论 IL-18基因启动子区-607C/A多态性与IAs的发病和破裂显著相关。Objective To analyze the association of IL - 18 promoter - 607C/A （ single nucleotide polymorphism） and the occurrence of intracranial aneurysms （IAs） and its rupture. Methods IL- 18 promoter region SNP -607C/A （rs1946518） genotype frequency and allele frequency of 98 IAs patients （aneurysm group） and 97 non -cerebrovascular disease patients （control group） were tested by using polymerase chain reaction -restriction fragment length polymorphism （PCR -RFLP） and DNA direct sequencing. The aneurysm patients were divided into ruptured group and non - ruptured group, and the association of IL - 18 polymorphism and the occurrence and rupture of IAs was analyzed. Results The measured value of genotype distribution of -607C/A locus （171 bp, 99 bp, 72 bp） showed no statistically significant differences compared with the expected value （171 bp） （X2 = 1. 662, P 〉 0. 05）, conforming to Hardy- Weinberg genetic equilibrium rule. The genotype and allele in - 607C/A locus showed statistically significant differences between the aneurysm group and the control group （ P 〈 0. 05 ）. CC genotype was the most commonly seen, followed by AA and CA genotypes. C allele was the most commonly seen and the frequency of C allele was significantly higher in the aneurysm group than in the control group （ P 〈 0. 05）. CC ＋ CA genotype increased the risk of IAs [ X2 = 10. 662, P 〈 0. 05, OR = 0. 357, 95% CI （0. 191, 0. 669） ]. The genotype and allele in - 607 locus showed statistically significant differences between the ruptured group and the non - ruptured group （ P 〈 0. 05 ）. The CC genotype was the most commonly seen, followed by AA and CA genotypes. C allele was the most commonly seen and the frequency of C allele was significantly higher in the ruptured group than in the non - ruptured group （ P 〈 0. 05 ）. CC ＋ CA genotype increased the risk of rupture of aneurysm [ x2 = 7. 286 , P〈0.05, OR=0.024, 95%CI （0.096, 0.717）1. Conclusion IL-18 promoter -607C/A （rs194651

关 键 词：颅内动脉瘤 白细胞介素18 单核苷酸多态性 

分 类 号：R651.122[医药卫生—外科学]