中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
4期
455-461
,共7页
徐翔%那娜%潘旭东%王琨%马爱军%王源%王丽%周润泽%赵国梅
徐翔%那娜%潘旭東%王琨%馬愛軍%王源%王麗%週潤澤%趙國梅
서상%나나%반욱동%왕곤%마애군%왕원%왕려%주윤택%조국매
TLR4基因%动脉粥样硬化性脑梗死%遗传多态性%单倍型
TLR4基因%動脈粥樣硬化性腦梗死%遺傳多態性%單倍型
TLR4기인%동맥죽양경화성뇌경사%유전다태성%단배형
TLR4 gene%Large artery atherosclerosis stroke%Genetic polymorphisms%Haplotype
目的 探讨中国北方汉族人群TLR4基因多态性与大动脉粥样硬化性(large artery atherosclerotic,LAA)脑梗死及脑动脉粥样硬化(atherosclerosis,AS)血管床选择性的关系.方法 按照TOAST病因分型选择286例LAA型脑梗死患者及300名健康对照者,并将LAA组按照脑动脉狭窄支数、颅内/外动脉狭窄、是否合并周围动脉狭窄(心血管、肾动脉、下肢动脉)、前/后循环动脉狭窄4种情况分为亚组.用聚合酶链反应-限制性片段长度多态性或直接测序法检测TLR4 3个单核苷酸多态性位点(rs1927914、rs1927911、rs2149356),并通过Haploview软件进行单倍型分析.结果 rs1927911位点基因型频率、rs2149356位点基因型及等位基因频率在LAA组与对照组间差异有统计学意义(P<0.05),rs1927914位点在两组间差异无统计学意义(P>0.05).所检3个位点多态在4种亚组中分布均未见明显差异(P>0.05).单倍型分析显示在LAA组,单倍型H2、H8显著低于对照组,单倍型H3显著高于对照组(P<0.05).结论 中国北方汉族人中,TLR4基因多态性与LAA型脑梗死相关,其与AS病变的血管床选择性未发现相关性.
目的 探討中國北方漢族人群TLR4基因多態性與大動脈粥樣硬化性(large artery atherosclerotic,LAA)腦梗死及腦動脈粥樣硬化(atherosclerosis,AS)血管床選擇性的關繫.方法 按照TOAST病因分型選擇286例LAA型腦梗死患者及300名健康對照者,併將LAA組按照腦動脈狹窄支數、顱內/外動脈狹窄、是否閤併週圍動脈狹窄(心血管、腎動脈、下肢動脈)、前/後循環動脈狹窄4種情況分為亞組.用聚閤酶鏈反應-限製性片段長度多態性或直接測序法檢測TLR4 3箇單覈苷痠多態性位點(rs1927914、rs1927911、rs2149356),併通過Haploview軟件進行單倍型分析.結果 rs1927911位點基因型頻率、rs2149356位點基因型及等位基因頻率在LAA組與對照組間差異有統計學意義(P<0.05),rs1927914位點在兩組間差異無統計學意義(P>0.05).所檢3箇位點多態在4種亞組中分佈均未見明顯差異(P>0.05).單倍型分析顯示在LAA組,單倍型H2、H8顯著低于對照組,單倍型H3顯著高于對照組(P<0.05).結論 中國北方漢族人中,TLR4基因多態性與LAA型腦梗死相關,其與AS病變的血管床選擇性未髮現相關性.
목적 탐토중국북방한족인군TLR4기인다태성여대동맥죽양경화성(large artery atherosclerotic,LAA)뇌경사급뇌동맥죽양경화(atherosclerosis,AS)혈관상선택성적관계.방법 안조TOAST병인분형선택286례LAA형뇌경사환자급300명건강대조자,병장LAA조안조뇌동맥협착지수、로내/외동맥협착、시부합병주위동맥협착(심혈관、신동맥、하지동맥)、전/후순배동맥협착4충정황분위아조.용취합매련반응-한제성편단장도다태성혹직접측서법검측TLR4 3개단핵감산다태성위점(rs1927914、rs1927911、rs2149356),병통과Haploview연건진행단배형분석.결과 rs1927911위점기인형빈솔、rs2149356위점기인형급등위기인빈솔재LAA조여대조조간차이유통계학의의(P<0.05),rs1927914위점재량조간차이무통계학의의(P>0.05).소검3개위점다태재4충아조중분포균미견명현차이(P>0.05).단배형분석현시재LAA조,단배형H2、H8현저저우대조조,단배형H3현저고우대조조(P<0.05).결론 중국북방한족인중,TLR4기인다태성여LAA형뇌경사상관,기여AS병변적혈관상선택성미발현상관성.
Objective To assess the association of TLR4 gene polymorphisms with large artery atherosclerosis (LAA) stroke and liability to atherosclerosis in an ethnic Han population from northern China.Methods The study has involved 286 LAA stroke patients and 300 healthy controls.The LAA group has been divided 4 subsets according to angiostenosis conditions.Polymerase chain reaction-restriction fragment length polymorphism and pyrosequencing were employed to analyze three single nucleotide polymorphism (SNPs) (rs1927914,rs1927911 and rs2149356) of the TLR4 gene.A Haploview software package was used to analyze the haplotypes.Results SNPs rs1927911 and rs2149356 were associated with LAA stroke.Genotypic and allelic frequencies of rs1927914 did not differ significantly between the two groups.Genetic variants of the three SNPs did not vary significantly between all subsets.Haplotype analysis was revealed a significant difference between the LAA group and the control group.Compared with the controls,the frequencies of haplotypes H2 and H8 were lower,and that of H3 was greater in the LAA group.Conclusion An association between the TLR4 gene polymorphisms and LAA stroke subtype in ethnic Han population in northern China has been found.However,no association of liability to atherosclerosis in different vascular bed has been found with these polymorphisms.