中文摘要：

目的探讨中国汉族人群急性脑梗死患者染色体9p21.3基因多态性与颈动脉斑块、神经功能缺损的相关性。方法采用回顾性病例对照研究,556例急性缺血性卒中病例（无斑块为对照组231例、单斑块组67例、多斑块组258例）,根据美国国立卫生院卒中量表（NIHSS）进行评分,颈动脉超声检测颈动脉斑块。用SPSS19.0软件统计数据。结果斑块组的平均住院天数明显多于无斑块组（P〈0.05）。颈动脉斑块与入院时的NIHSS评分之间呈正相关（P〈0.05）。无论是在小于等于65岁还是超过65岁两个年龄段,9p21区带上所有6个SNPs（rs10757278、rs1333049、rs2383206、rs1537378、rs4977574和rs2383207）的等位基因频率分布在无斑块组（对照组）与斑块组均无显著性意义（P〉0.05）。同时发现颈动脉斑块的存在导致严重神经功能缺损（P〈0.001;OR=2.29;95%CI=1.54～3.40）。单斑组、多斑组患者对神经功能缺损的影响分别为无斑块组的1.87倍（95%CI,1.02～3.42;P=0.043）和2.42倍（95%CI,1.59-3.66;P〈0.001）,而颈动脉斑块的面积大小与神经功能缺损无明显相关性。结论 6个9p21.3区域SNP位点与颈动脉粥样硬化之间无关联性;急性脑梗死发病期有颈动脉斑块的患者有更严重的神经功能缺损。

英文摘要：

Objective To investigate the relationship between chromosome 9p21. 3 gene polymorphism and carotid plaques,the correlation with nerve function defect in Chinese han population with acute cerebral infarction. Methods A retrospective case-control study was conducted,including 556 cases of acute ischemic stroke（ no plaque for the control group,231 cases,single plaque group,67 cases,plaque group,258 cases）,Risk factors,the national institutes of health stroke scale（ NIHSS） score at admission were obtained,and carotid ultrasonography was performed to detect carotid plaques. SPSS19. 0 software was used for statistical data. Results The average hospitalization days of plaque group was obviously more than no plaque group（ P〈0. 05）. Carotid plaques were positively correlated with NIHSS score on admission to hospital（ P〈0. 05）. In groups both less than or equal to 65 years old and over 65 years old,9 p21 zones on all six SNPs（ rs10757278 rs1333049 rs2383206,rs1537378,rs4977574 and rs2383207） allele frequency distribution in the absence of plaque group（ control group） and plaque group had no significant（ P〉0. 05）. Also found that the presence of carotid plaques lead to severe neurologic deficits（ P〈0. 001; OR = 0. 001; 95% CI,1. 54 - 3. 40）. Single spot,spot group＇s influence on nerve function defect in patients respectively was 1. 87 times（ 95% CI,1. 02-3. 42; P = 1. 02） and 2. 42 times（ 95% CI,1. 59 - 3. 66; P〈0. 001） risk factors than no plaque group. However,the area size of carotid plaques has no obvious correlation with neural function defect. Conclusions Six 9p21. 3 regional SNP loci had no correlation with carotid plaques. The onset of acute cerebral infarction patients with carotid plaques have more severe neurologic deficits.