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

doi:10.16150/j.1671-2870.2016.05.013

诊断学理论与实践 ›› 2016, Vol. 15 ›› Issue (05): 498-502.doi: 10.16150/j.1671-2870.2016.05.013

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

买买提依明¹, 热西旦^1,*, 陈波¹, 张祥², 马卫英¹, 杨康³, 傅毅³

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

收稿日期:2016-08-31 出版日期:2016-10-25 发布日期:2022-07-27
通讯作者: 傅毅 E-mail: fuyiki@sina.com
作者简介:*：并列第一作者
基金资助:
新疆维吾尔族自治区自然科学基金（2015211C223）

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

MAIMAITI Yiming¹, RE Xidan^1,*, CHEN Bo¹, ZHANG Xiang², MA Weiying¹, YANG Kang³, FU Yi³

1. Department of Neurology, the Second People's Hospital of Kashgar, Xinjiang Kashgar 844000, China;
2. Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China;
3. Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2016-08-31 Online:2016-10-25 Published:2022-07-27

摘要/Abstract

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。

关键词: 颈动脉斑块, 单核苷酸多态性, 9p21, 脑梗死

Abstract: 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 region 9p21 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% vs 41.7%) (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 patients with non-cardioembolic cerebral infarction in Xinjiang and Shanghai.

Key words: Carotid plaque, Single nucleotide polymorphisms, 9p21, Cerebral infarction

中图分类号:

R743.3

买买提依明, 热西旦, 陈波, 张祥, 马卫英, 杨康, 傅毅. 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[J]. 诊断学理论与实践, 2016, 15(05): 498-502.

MAIMAITI Yiming, RE Xidan, CHEN Bo, ZHANG Xiang, MA Weiying, YANG Kang, FU Yi. Analysis on relationship between polymorphism of chromosome region 9p21 and susceptibility of carotid plaque in acute non-cardioembolic cerebral infarction patients[J]. Journal of Diagnostics Concepts & Practice, 2016, 15(05): 498-502.

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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

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