检验医学
檢驗醫學
검험의학
LABORATORY MEDICINE
2015年
4期
367-375
,共9页
单核苷酸多态性%染色体9 p21%脑梗死
單覈苷痠多態性%染色體9 p21%腦梗死
단핵감산다태성%염색체9 p21%뇌경사
Single nucleotide polymorphism%Chromosome 9p21%Cerebral infarction
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。
目的：探討染色體9p21的單覈苷痠多態性（SNP）與腦梗死易感性的關繫。方法應用聚閤酶鏈反應-高溫連接酶檢測反應（ PCR-LDR）檢測528例非心源性腦梗死患者（375例閤併頸動脈斑塊，153例無頸動脈斑塊）、258名正常對照者的染色體9p21．3區帶 rs10757278、rs1333049、rs2383206、rs1537378、rs4977574和rs23832076箇位點的SNP。同時採用多元Logistic迴歸分析和χ2檢驗對統計有意義的位點分析基因交互作用，計算比值比（ OR）和95％可信區間（ CI）。結果在45～65歲的中年人群中，rs2383206和rs4977574的G等位基因在腦梗死無頸動脈斑塊組的攜帶人數（分彆為55．0％和54．2％）明顯多于正常對照組（45．9％和44．4％，P＝0．024、0．015）；而同時含有rs2383206和rs49775742箇位點GG純閤突變基因型的箇體髮生腦梗死的風險可能是同時攜帶非GG純閤突變基因型（GA＋AA）箇體的1．733倍。6箇位點之間都存在彊的連鎖不平衡關繫。結論染色體9p21區帶中rs2383206、rs49775742箇位點的SNP與急性腦梗死的髮生易感性可能有一定關聯。
목적：탐토염색체9p21적단핵감산다태성（SNP）여뇌경사역감성적관계。방법응용취합매련반응-고온련접매검측반응（ PCR-LDR）검측528례비심원성뇌경사환자（375례합병경동맥반괴，153례무경동맥반괴）、258명정상대조자적염색체9p21．3구대 rs10757278、rs1333049、rs2383206、rs1537378、rs4977574화rs23832076개위점적SNP。동시채용다원Logistic회귀분석화χ2검험대통계유의의적위점분석기인교호작용，계산비치비（ OR）화95％가신구간（ CI）。결과재45～65세적중년인군중，rs2383206화rs4977574적G등위기인재뇌경사무경동맥반괴조적휴대인수（분별위55．0％화54．2％）명현다우정상대조조（45．9％화44．4％，P＝0．024、0．015）；이동시함유rs2383206화rs49775742개위점GG순합돌변기인형적개체발생뇌경사적풍험가능시동시휴대비GG순합돌변기인형（GA＋AA）개체적1．733배。6개위점지간도존재강적련쇄불평형관계。결론염색체9p21구대중rs2383206、rs49775742개위점적SNP여급성뇌경사적발생역감성가능유일정관련。
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 .
