首页|rs556621单核苷酸多态性与症状性颅内动脉粥样硬化性疾病患者缺血性脑卒中复发的相关性分析

rs556621单核苷酸多态性与症状性颅内动脉粥样硬化性疾病患者缺血性脑卒中复发的相关性分析

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目的 探讨rs556621位点的单核苷酸多态性(single nucleotide polymorphism,SNP)与症状性颅内动脉粥样硬化性疾病(symptomatic intracranial atherosclerotic disease,sICAD)患者缺血性脑卒中(ischemic stroke,IS)复发之间的相关性.方法 采用前瞻性单中心队列研究方法,纳入2017年3月~2019年10月上海交通大学医学院附属第一人民医院收治的sICAD患者,采用TaqMan技术检测rs556621位点基因型,收集IS高危因素相关的临床数据,并对IS复发情况进行为期2年的随访.根据复发情况将患者分为复发组和未复发组,采用单因素分析比较两组IS高危因素以及显性、隐性和等位基因遗传模型下rs556621位点基因型的差异.采用多因素COX回归分析评价sICAD患者IS复发的独立危险因素.结果 本研究共纳入58例sICAD患者,1年和2年IS累积复发率分别为12.07%和20.69%.基因型分析表明,rs556621偏离哈迪-温伯格平衡,提示该位点可能与sI-CAD易感性相关.单因素分析结果显示,复发组的血清总胆固醇和高密度脂蛋白胆固醇水平均显著低于未复发组,差异均有统计学意义(P<0.05).在显性遗传分析模式下,虽然两组rs556621位点基因型的分布差异无统计学意义(P=0.096),但提示该位点的显性遗传效应与IS复发可能相关.多因素COX回归分析结果显示,rs556621位点TT基因型的sICAD患者,与携带CC或CT基因型的患者比较,2年IS复发风险更高(OR=4.659,95%CI:1.179~18.411,P=0.028).结论 在sICAD患者中,显性遗传分析模式下rs556621位点的TT基因型是IS复发的独立危险因素.
Association between Single Nucleotide Polymorphism of rs556621 and Recurrence of Ischemic Stroke in Patients with Symptomatic Intracrani-al Atherosclerosis Disease
Objective To explore the association between single nucleotide polymorphism(SNP)of rs556621 and recurrence of is-chemic stroke(IS)in patients with symptomatic intracranial atherosclerotic disease(sICAD).Methods This prospective,single-cen-ter cohort study consecutively enrolled patients with sICAD admitted to the Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine from March 2017 to October 2019.Genotyping analysis was performed through a TaqMan assay,clinical data related to stroke risk factors were collected,and stroke recurrence were recorded through the 2-year follow-up.The patients were divided into re-current group and non-recurrent group according to the recurrence situation,univariate analysis was used to compare the differences in stroke risk factors and distribution of rs556621 variants under dominant,recessive and allele models between participants.Multivariate COX regression analysis was applied to analyze the independent risk factors for recurrence of IS in sICAD.Results Fifty-eight sICAD patients were included in this study,and their cumulative recurrence rates of IS at 1 year and 2 years were 12.07%and 20.69%,respec-tively.Genotype analysis showed notable deviations from Hardy-Weinberg equilibrium at rs556621 locus,suggesting its potential role in ICAD susceptibility.Univariate analysis showed that the serum total cholesterol and high-density lipoprotein cholesterol in recurrent group were significantly lower than those in non-recurrent group,and the difference was statistically significant(P<0.05).In the domi-nant genetic analysis mode,although there was no statistically significant difference in the genotype distribution of rs556621 between the two groups(P=0.096),it suggested that the dominant genetic effect of this locus may have potential effect on recurrence of IS.Multiva-riate COX regression analysis showed that patients with TT genotype at rs556621had a higher risk of 2-year recurrence of IS compared with carriers of CC or CT genotype(OR=4.659,95%CI:1.179-18.411,P=0.028).Conclusion Under dominant genetic analy-sis model,TT genotype at rs556621 is an independent risk factor for recurrence of IS in sICAD patients.

Intracranial atherosclerotic diseaseLarge artery atherosclerotic ischemic strokeSingle nucleotide polymorphismStrokeRecurrence

谷悦、王乔树

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201620 上海交通大学医学院附属第一人民医院神经内科

颅内动脉粥样硬化性疾病 大动脉粥样硬化型缺血性脑卒中 单核苷酸多态性 脑卒中 复发

2024

医学研究杂志
中国医学科学院

医学研究杂志

CSTPCD
影响因子:0.702
ISSN:1673-548X
年,卷(期):2024.53(12)