染色体9p21多态性与新疆维吾尔族急性非心源性脑梗死易感性的关系及临床相关特征分析  

Association between the polymorphism of chromosome 9p21 and the susceptibility of acute non-cardiogenic cerebral infarction in Xinjiang Uygur patients and clinical related characteristic analysis

作　　者：麦麦提依明·外斯丁 凯赛尔江·麦麦提依明 古次里娜·托汗 阿不都克尤木·亚生 金海燕 阿依努尔·阿布都塞买提 李红梅 热西达木·买买提 MAIMAITI Yiming·Waisiding;KSAERJIANG·Maimaiti Yiming;GU Cilina·Tuohan;A Budu Keyoumu·Yasheng;JIN Hai-yan;A Yinuer·Abudusaimaiti;LI Hong-mei;RE Xidamu·Maimaiti(Department of Neurology,Second People's Hospital of Kashgar Prefecture of Xinjiang Uygur Autonomous Region,Kashgar Prefecture,Xinjiang,844000,China)

机构地区：[1]新疆维吾尔自治区喀什地区第二人民医院神经内科,新疆喀什844000 [2]新疆医科大学第一附属医院昌吉分院重症医学科

出　　处：《心血管康复医学杂志》2024年第4期381-386,共6页Chinese Journal of Cardiovascular Rehabilitation Medicine

基　　金：新疆维吾尔自治区自然科学基金(2015211C223)。

摘　　要：目的:观察新疆维吾尔族急性非心源性脑梗死(ANCCI)患者染色体9p21区域rs10757274、rs7044859、rs4977574和rs496892基因多态性分布与脑梗死易感性的关系。方法:选择2012年1月~2015年12月在新疆维吾尔自治区喀什地区第二人民医院住院的178例维吾尔族ANCCI患者,其中伴有颈动脉斑块者117例,无颈动脉斑块者61例。应用聚合酶链反应-高温连接酶检测反应(PCR-LDR)技术对两组患者染色体9p21区域rs10757274、rs7044859、rs4977574、rs496892位点进行基因多态性分析和比较。结果:与无颈动脉斑块组比较,有颈动脉斑块组rs4977574中G等位基因频率显著升高(44.3%比53.0%),rs4977574的AA基因型频率显著降低(37.7%比20.5%)(P均<0.05)。rs4977574 GG基因型和AG基因型的患者发生颈动脉斑块的风险分别是AA基因型患者的2.476倍和2.285倍。与非GG基因型组比较,GG基因型组糖尿病(16.3%比30.2%)、小血管病变比例(42.2%比60.5%)和收缩压[(135.91±20.89)mmHg比(143.57±20.34)mmHg]显著升高(P均<0.05)。结论:染色体9p21中rs4977574基因多态性与维吾尔族急性非心源性脑梗死患者发生颈动脉斑块的易感性有关联,该位点GG纯合突变可能预示小血管病变的风险升高。Objective:To observe the relationship between the distribution of chromosome 9p21 region rs10757274,rs7044859,rs4977574 and rs496892 gene polymorphisms and susceptibility to cerebral infarction in Uyghur patients with acute non-cardiogenic cerebral infarction(ANCCI)in Xinjiang.Methods:A total of 178 Uyghur ANCCI patients who admitted to Second People's Hospital of Kashgar Prefecture of Xinjiang Uygur Autonomous Region from Jan 2012 to Dec 2015 were selected,including 117 cases with and 61 cases without carotid plaque.Gene polymorphism analysis and comparison of rs10757274,rs7044859,rs4977574,rs496892 loci in chromosome 9p21 region of two groups was performed by applying polymerase chain reaction-high temperature ligase detection reaction(PCR-LDR)technique.Results:Compared with no carotid plaque group,there was significant rise in G allele frequency of rs4977574(44.3%vs.53.0%),and significant reduction in AA genotype frequency of rs4977574(37.7%vs.20.5%)in carotid plaque group(P<0.05 both).The risk of carotid plaque in patients carrying GG genotype and AG genotype of rs4977574 was 2.476 and 2.285 times of that of those with AA genotype.Compared with non-GG genotype group,there were significant rise in proportions of diabetes(16.3%vs.30.2%),small vessel disease(42.2%vs.60.5%)and systolic blood pressure[(135.91±20.89)mmHg vs.(143.57±20.34)mmHg]in GG genotype group(P<0.05 all).Conclusion:The rs4977574 gene polymorphism in chromosome 9p21 is associated with susceptibility to developing carotid plaque in Uyghur patients with acute non-cardiogenic cerebral infarction,and GG-pure mutations at this locus may predict an increased risk of small vessel disease.

关 键 词：脑梗死 颈动脉疾病 多态性 单核苷酸 

分 类 号：R743.3309[医药卫生—神经病学与精神病学]