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 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.
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