张婷许宏伟石志鸿纪勇

染色体9P21多态性与大动脉粥样硬化型脑梗死的相关性☆

张婷*许宏伟△石志鸿*纪勇*

目的探讨染色体9p21的rs7049105、rs647188、rs1333035位点与湖南长沙汉族人群大动脉粥样硬化型脑梗死（large-artery atherosclerosis stroke，LAS）的相关性，并研究这3个位点在有头颈部动脉粥样硬化证据的人群中与LAS的相关性。方法收集湖南长沙汉族人群中229例LAS患者为病例组，同期门诊及体检中心“健康”人群中233例为对照组1，其中有动脉粥样硬化证据的对照150例（64.38%）纳入对照组2，无动脉粥样硬化证据的对照83例（35.62%）纳入对照组3。利用基质辅助激光解析飞行时间质谱（MALDI-TOF-MS）方法对样本进行基因分型检测。结果rs647188位点在湖南长沙汉族人群中可能不存在多态性；病例组与对照组1间、病例组与对照组3间rs7049105和rs1333035位点及病例组与对照组2间rs7049105位点的多态性分布比较未发现统计学差异（P＞0.05）。病例组与对照组2间rs1333035位点的基因型频率分布比较发现有统计学差异（χ2=6.502，P= 0.039）。结论染色体9p21的rs10757274、rs7049105多态性与湖南长沙地区汉族人群LAS可能不相关，在湖南长沙汉族人群中rs647188位点可能不存在多态性，rs1333035位点多态性可能与启动斑块破裂及血栓栓塞相关。

9p21大动脉粥样硬化型脑梗死 多态性

【Abstract】Objective To explore the association between rs7049105，rs647188，rs1333035 of chromosome 9p21 and the LAS among Chinese Han population of Changsha；to explore the association between rs7049105，rs647188，rs1333035 and the LAS among patients with evidence of cephalic and cervical vessel atherosclerosis.Methods The present study comprised 229 LAS patients and 233 healthy controls.The 233 controls which we defined control group 1.In the controls，150 （64.38%）controls with evidence of atherosclerosis were defined as control group 2，83（35.62%）controls without evidence of atherosclerosis were defined as control group 3.The sample genotyping was detected using MALDI-TOF-MS.Results There was no polymorphism of rs647188 among case group and control group 1.There was no significant difference in the polymorphism distribution of rs7049105 and rs1333035 between the case group and control group 1 and 3（P＞0.05）.There may be no significant different in the polymorphism distribution of rs7049105 between the case group and control group 2. The rs1333035 was associated with risk of LAS among patients with evidence of cephalic and cervical vessel atherosclerosis （χ2=6.502，P=0.039）.Conclusions The rs10757274 and rs7049105 polymorphism in the chromosome 9p21 may not be associated with risk of LAS among Han population of Changsha.There may be no polymorphism of rs647188 among Han populationof Changsha.The rs1333035polymorphism may be associatedwithplaque rupture andthrombosis.

【Key words】9p21 Large-artery atherosclerosis stroke Polymorphism

脑梗死是一种复杂的多基因疾病，发现疾病的致病基因或位点，可以为诊断及治疗该病提供靶点。在染色体9p21中，9p21.3是到目前为止与冠心病相关性最为显著的区域［1-3］。2012年METASTROKE协作组通过对多个GWAS进行Meta分析验证了9p21.3也与LAS存在相关性（p=3.32× 10-5）［4］，在9p21.3上游距离约80kb的一个区域有许多连锁不平衡（linkage disequilibrium，LD）的SNP位点，在一些研究中该区域被命名为1号单倍型区域［5-6］。……