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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 investigate the association of rs10757274, rs7044859, rs4977574 and rs496892 polymorphisms in chromosome 9p21 with carotid plaque in patients with acute non-cardiac infarction. Methods: A total of 411 acute non-cardio cerebral infarction patients (181 without carotid plaque group) in Xinjiang and Shanghai regions were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR) , With 230 cases of carotid plaque group) chromosome 9p21 region rs10757274, rs7044859, rs4977574 and rs496892 these four sites for genetic polymorphism. Results: In middle-aged and elderly patients with cerebral infarction in Xinjiang and Shanghai, the percentage of G allele carrying rs4977574 in carotid plaque group was significantly higher than that in non-carotid artery plaque group (52.6% vs. 41.7%, P = 0.006). The GG genotypes of rs4977574 in carotid plaque group were higher than those in non-carotid artery plaque group (26.5% vs 20.4%, P = 0.002). There was a strong linkage disequilibrium between rs10757274 and rs4977574, rs7044859 and rs496892. CONCLUSIONS: In the middle-aged and elderly patients with cerebral infarction in Xinjiang and Shanghai, the polymorphism of rs4977574 in chromosome 9p21 may be related to the occurrence of carotid plaques.