染色体9p21多态性与急性非心源性脑梗死患者颈动脉斑块的易感性分析  

Analysis on relationship between polymorphism of chromosome region 9p21 and susceptibility of carotid plaque in acute non-cardioembolic cerebral infarction patients

作　　者：买买提依明 热西旦 陈波 张祥[2] 马卫英 杨康[3] 傅毅[3] 

机构地区：[1]新疆喀什地区第二人民医院神经内科,新疆喀什地区844000 [2]复旦大学附属华山医院神经内科,上海200040 [3]上海交通大学医学院附属瑞金医院神经内科,上海200025

出　　处：《诊断学理论与实践》2016年第5期498-502,共5页Journal of Diagnostics Concepts & Practice

基　　金：新疆维吾尔自治区自然科学基金(2015211C223)

摘　　要：目的:探讨急性非心源性脑梗死患者染色体9p21区域rs10757274、rs7044859、rs4977574和rs496892基因多态性与颈动脉斑块的相关性。方法:应用聚合酶链反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction,PCR-LDR)对新疆和上海地区共411例急性非心源性脑梗死患者(无颈动脉斑块组181例,伴有颈动脉斑块组230例)的染色体9p21区域rs10757274、rs7044859、rs4977574和rs496892这4个位点进行基因多态性分析。结果:在新疆和上海地区的中老年脑梗死患者中,颈动脉斑块组的携带rs4977574的G等位基因百分比明显多于无颈动脉斑块组,分别是52.6%比41.7%(校正后P=0.006);颈动脉斑块组患者rs4977574的GG基因型携带百分比高于无颈动脉斑块组,分别是26.5%比20.4%(P=0.002)。位点rs10757274与rs4977574之间、位点rs7044859与rs496892之间存在强的连锁不平衡关系。结论:在新疆和上海地区的中老年脑梗死患者中,染色体9p21区带中rs4977574的基因多态性与颈动脉斑块的发生可能有一定关联。Objective： To analyze the relationship between gene polymorphism of chromosome region 9p21（rs10757274, rs7044859, rs4977574 and rs496892） and carotid plaque in acute non-cardioembolic cerebral infarction patients. Methods： The gene polymorphisms of site rs10757274, rs7044859, rs4977574 and rs496892 in chromosome region9p21 were analyzed with polymerase chain reaction-ligase detection reaction（PCR-LDR） in 411 acute non-cardioembolic cerebral infarction patients（230 with carotid plaque while 181 without）. Results： Compared with those without carotid plaque, an increased frequency in the G allele of rs4977574 was seen in patients with carotid plague group（52.6% vs41.7%）（adjusted P=0.006）, as well as the frequency in GG allele of rs4977574 genotype（26.5% vs 20.4%）（P=0.002）.Strong linkage disequilibrium existed not only between rs10757274 and rs4977574, but also between rs7044859 and rs496892. Conclusions： Genetic polymorphism of rs4977574 on 9p21 is potentially associated with carotid plaque in pa-tients with non-cardioembolic cerebral infarction in Xinjiang and Shanghai.

关 键 词：颈动脉斑块 单核苷酸多态性 9p21 脑梗死 

分 类 号：R743.3[医药卫生—神经病学与精神病学]