IL1R1和IL1R2基因多态性与缺血性脑卒中患病风险的相关性

Association of IL1R1 and IL1R2 Gene Polymorphisms with Risk of Ischemic Stroke

目的:研究IL1R1和IL1R2基因多态性与缺血性脑卒中患病风险的相关性。方法:选择缺血性脑卒中患者及同期健康人群各300例分别作为病例组和对照组,采用Sequenom Mass ARRAY SNP基因分型技术检测2组受试者外周血中IL1R1和IL1R2基因单核苷酸多态性(SNP)位点rs11674595、rs3218896、rs3218977、rs2072472、rs10490571、rs956730、rs3917225及rs3917318的多态性,以相对优势比(OR)及95%可信区间(95%CI)评估SNP与缺血性脑卒中患病风险的关系;引入共显性、显性、隐性和加性4个遗传模型,评估有相关性的SNP位点等位基因风险。结果:通过比较病例和对照组之间各位点的最小等位基因频率,结果显示3个位点与增加缺血性脑卒中风险具有相关性,分别是rs11674595位点(OR=1.344,95%CI为1.083~1.668,P=0.007)、rs10490571位点(OR=1.284,95%CI为1.018~1.620,P=0.035)和rs3917225位点(OR=1.282,95%CI为1.059~1.553,P=0.011);遗传模型分析结果显示,在显性模型下有3个位点与缺血性脑卒中患病风险显著相关,其中rs11674595位点携带C/T和C/C基因型的个体患缺血性脑卒中的风险显著增高,是携带T/T基因型的1.55倍(OR=1.55,95%CI为1.16~2.06,P=0.002 8);rs10490571位点携带C/T和T/T基因型的个体患缺血性脑卒中的风险显著增高,是携带C/C基因型的1.51倍(OR=1.51,95%CI为1.12~2.02,P=0.006 8);rs3917225位点携带A/G和G/G基因型的个体患缺血性脑卒中的风险显著增高,是携带A/A基因型的1.50倍(OR=1.50,95%CI为1.12~2.03,P=0.005 9)。结论:IL1R1基因上rs10490571、rs3917225位点和IL1R2基因上rs11674595位点与缺血性脑卒中患病风险增高具有相关性。

Objective： To investigate the association of IL1 R1 and IL1 R2 Gene Polymorphisms with risk of Ischemic Stroke. Methods： 300 patients with ischemic stroke and 300 healthy people were selected as case group and control group respectively. The 8 loci polymorphisms of rs11674595,rs3218896,rs3218977,rs2072472,rs10490571,rs956730,rs10490571 and rs3917318 of IL1 R1 and IL1 R2 genes in 2 groups were detected by Sequenom Mass ARRAY SNP genotyping. Relative dominance rate（ OR） and 95% credibility interval（ 95% CI） evaluated the relationship between SNP and risk of ischemic stroke. Four genetic models of co-dominance,dominance,recessiveness and additivity were introduced to evaluate the allelic risk of SNP loci. Results： By comparing the minimum allelic frequencies of each site between the case and the control group,the results showed that the three loci were correlated with the increased risk of ischemic stroke such as the rs11674595 locus（ OR = 1. 344,95% CI = 1. 083 ~ 1. 668,P = 0. 007）,rs10490571 locus（ OR = 1. 284,95% CI = 1. 018 ~ 1. 620,P = 0. 035） and the rs3917225 locus（ OR = 1. 282,95% CI = 1. 059 ~ 1. 553,P = 0. 011）. Genetic model analysis showed that three loci were significantly associated with the risk of ischemic stroke in the dominant model. For rs11674595 loci,individuals with C/T and C/C genotypes were at a significantly higher risk of ischemic stroke and 1. 55 times as much as those with the T/T genotype（ OR =1. 55,95% CI： 1. 16 ~ 2. 06,P = 0. 002 8）. For rs10490571 loci,individuals with C/T and T/T genotypes were at a significantly higher risk of ischemic stroke and 1. 51 times higher than those with C/C genotype（ OR = 1. 51,95% CI = 1. 12 ~ 2. 02,P = 0. 006 8）. For the rs3917225 locus,the risk of ischemic stroke in the individuals carrying the A/G and G/G genotypes was significantly higher and1. 50 times as much as the A/A genotype（ OR = 1. 50,95% CI = 1. 12 ~ 2. 03,P = 0. 005 9）.Conclusion： The rs10490571 and rs3917225 locus in IL1 R1 gene and rs11674595 locus in IL1 R2 gene are associated with increased risk of ischemic stroke.