染色体9p21单核苷酸多态性与脑梗死的相关性分析  

Correlation analysis of cerebral infarction with single nucleotide polymorphism of chromosome 9p21

作　　者：朱扬[1] 卢钟娇[2] 傅毅[2] 

机构地区：[1]上海市第二人民医院神经内科,上海200011 [2]上海交通大学附属瑞金医院神经内科,上海200025

出　　处：《检验医学》2015年第4期367-375,共9页Laboratory Medicine

摘　　要：目的：探讨染色体9p21的单核苷酸多态性（SNP）与脑梗死易感性的关系。方法应用聚合酶链反应-高温连接酶检测反应（ PCR-LDR）检测528例非心源性脑梗死患者（375例合并颈动脉斑块，153例无颈动脉斑块）、258名正常对照者的染色体9p21．3区带 rs10757278、rs1333049、rs2383206、rs1537378、rs4977574和rs23832076个位点的SNP。同时采用多元Logistic回归分析和χ2检验对统计有意义的位点分析基因交互作用，计算比值比（ OR）和95％可信区间（ CI）。结果在45-65岁的中年人群中，rs2383206和rs4977574的G等位基因在脑梗死无颈动脉斑块组的携带人数（分别为55．0％和54．2％）明显多于正常对照组（45．9％和44．4％，P＝0．024、0．015）；而同时含有rs2383206和rs49775742个位点GG纯合突变基因型的个体发生脑梗死的风险可能是同时携带非GG纯合突变基因型（GA＋AA）个体的1．733倍。6个位点之间都存在强的连锁不平衡关系。结论染色体9p21区带中rs2383206、rs49775742个位点的SNP与急性脑梗死的发生易感性可能有一定关联。Objective To study the relationship between single nucleotide polymorphism （ SNP） in chromosome 9p21 and the susceptibility of cerebral infarction .Methods Polymerase chain reaction-ligase detection reaction （ PCR-LDR） was applied to determine the six gene locus of SNP between the observation group and normal control group . These six gene locus were rs10757278, rs1333049, rs2383206, rs1537378, rs4977574 and rs2383207 in chromosome 9p21.3.And the observation group had 528 cases of patients with non cardiogenic cerebral infarction （375 cases of them had carotid artery plaque, and the other 153 cases did not have）, while the normal control group had 258 cases.Using multivariate Logistic regression and χ2 test to analysis the site of the statistical significant genetic interactions , calculated the odds ratios （ OR） and 95%confidence interval （ CI） .Results At the age of 45-65 middle-aged crowd , G allelic genes of rs2383206 and rs4977574, the carriers without carotid artery plaque in cerebral infarction group （55.0% and 54.2%） were significantly more than the normal control group （45.9% and 44.4%, P=0.024, 0.015）;And to the risk of cerebral infarction , the GG genotype homozygous mutations accompanied with two gene locus rs 2383206 and rs4977574 was 1.733 times to non-GG genotype homozygous mutations （ GA ＋AA）.The six gene locus had strong disequilibrium between relations .Conclusions 9p21 chromosome zone in rs2383206 and rs4977574 two loci gene SNP relate to the susceptibility to the occurrence of acute cerebral infarction .

关 键 词：单核苷酸多态性 染色体9 P21 脑梗死 

分 类 号：Q503[生物学—生物化学]