中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2015年
30期
2428-2432
,共5页
孙月杰%许小毛%孙亮%张恩毅%翟振国%方保民%肖飞
孫月傑%許小毛%孫亮%張恩毅%翟振國%方保民%肖飛
손월걸%허소모%손량%장은의%적진국%방보민%초비
肺栓塞%血管性血友病%多态性,单核苷酸%连锁不平衡
肺栓塞%血管性血友病%多態性,單覈苷痠%連鎖不平衡
폐전새%혈관성혈우병%다태성,단핵감산%련쇄불평형
Pulmonary embolism%yon Willebrand disease%Polymorphism,single nucleotide%Linkage disequilibrium
目的 探讨血管性血友病因子(VWF)基因三个常见变异位点rs216321、rs216325和rs1800378与肺血栓栓塞症(PTE)的相关性.方法 选取2008年11月至2012年3月卫生部北京医院及北京朝阳医院呼吸科确诊的95例PTE患者为PTE组,同期90名健康体检人群为对照组,均采集空腹静脉血,提取基因组DNA.挑选VWF中次要等位基因频率(MAF)＞ 0.05的三个单核苷酸多态性位点:rs216321 (T/C)、rs216325 (G/A)和rs1800378(T/C),经聚合酶链反应(PCR)-Sanger法测序验证,分析两组各位点等位基因及基因型分布频率的差异,并分析其单倍型与PTE的相关性.结果 VWF基因rs216325 (G/A)、rs1800378 (T/C)位点的等位基因频率在两组间的分布差异有统计学意义(P =0.039、0.006);rs216325中AA基因型与PTE的发生正相关(r=1.914,P=0.047),rs1800378中TT基因型与PTE的发生正相关(r=0.282,P=0.008).TGT单倍型在两组间的分布差异有统计学意义,该单倍型与PTE的发生正相关(r=0.239,P＜0.001).结论 VWF基因rs216325及rs1800378位点的变异与PTE具有相关性,其中rs216325中AA基因型携带、rs1800378中TT基因型携带及TGT单倍型携带预示较高的PTE发病风险.
目的 探討血管性血友病因子(VWF)基因三箇常見變異位點rs216321、rs216325和rs1800378與肺血栓栓塞癥(PTE)的相關性.方法 選取2008年11月至2012年3月衛生部北京醫院及北京朝暘醫院呼吸科確診的95例PTE患者為PTE組,同期90名健康體檢人群為對照組,均採集空腹靜脈血,提取基因組DNA.挑選VWF中次要等位基因頻率(MAF)＞ 0.05的三箇單覈苷痠多態性位點:rs216321 (T/C)、rs216325 (G/A)和rs1800378(T/C),經聚閤酶鏈反應(PCR)-Sanger法測序驗證,分析兩組各位點等位基因及基因型分佈頻率的差異,併分析其單倍型與PTE的相關性.結果 VWF基因rs216325 (G/A)、rs1800378 (T/C)位點的等位基因頻率在兩組間的分佈差異有統計學意義(P =0.039、0.006);rs216325中AA基因型與PTE的髮生正相關(r=1.914,P=0.047),rs1800378中TT基因型與PTE的髮生正相關(r=0.282,P=0.008).TGT單倍型在兩組間的分佈差異有統計學意義,該單倍型與PTE的髮生正相關(r=0.239,P＜0.001).結論 VWF基因rs216325及rs1800378位點的變異與PTE具有相關性,其中rs216325中AA基因型攜帶、rs1800378中TT基因型攜帶及TGT單倍型攜帶預示較高的PTE髮病風險.
목적 탐토혈관성혈우병인자(VWF)기인삼개상견변이위점rs216321、rs216325화rs1800378여폐혈전전새증(PTE)적상관성.방법 선취2008년11월지2012년3월위생부북경의원급북경조양의원호흡과학진적95례PTE환자위PTE조,동기90명건강체검인군위대조조,균채집공복정맥혈,제취기인조DNA.도선VWF중차요등위기인빈솔(MAF)＞ 0.05적삼개단핵감산다태성위점:rs216321 (T/C)、rs216325 (G/A)화rs1800378(T/C),경취합매련반응(PCR)-Sanger법측서험증,분석량조각위점등위기인급기인형분포빈솔적차이,병분석기단배형여PTE적상관성.결과 VWF기인rs216325 (G/A)、rs1800378 (T/C)위점적등위기인빈솔재량조간적분포차이유통계학의의(P =0.039、0.006);rs216325중AA기인형여PTE적발생정상관(r=1.914,P=0.047),rs1800378중TT기인형여PTE적발생정상관(r=0.282,P=0.008).TGT단배형재량조간적분포차이유통계학의의,해단배형여PTE적발생정상관(r=0.239,P＜0.001).결론 VWF기인rs216325급rs1800378위점적변이여PTE구유상관성,기중rs216325중AA기인형휴대、rs1800378중TT기인형휴대급TGT단배형휴대예시교고적PTE발병풍험.
Objective To elucidate the relationship between three common variation loci of von Willebrand factor (VWF) gene (rs216321,rs216325 and rs1800378) and pulmonary thromboembolism.Methods A total of 95 patients with definite pulmonary thromboembolism (PTE) at Beijing Chaoyang Hospital and Beijing Hospital during November 2008 to March 2012 served as PTE group while 90 healthy subjects at Beijing Hospital during the same period as control group.Fasting venous blood samples were collected for extracting genomic DNA.Three common variation loci with single nucleotide polymorphism were rs216321 (T/C),rs216325 (G/A) and rs1800378 (T/C) and their minor allele frequency was over 0.05 in VWF gene.The method of polymerase chain reaction (PCR)-Sanger was employed for sequencing.The differences of alleleic and genotypic frequencies between PTE and control groups were compared for each locus.And the correlations of their haplotypes with PTE were analyzed.Results The distributions of rs216325 (G/A) and rs1800378 (T/C) in VWF gene had significant difference between PTE and control groups (P =0.039,0.006).And rs216325 with genotype AA was positively correlated with PTE occurrence (r =1.914,P =0.047).And rs1800378 with genotype TT was also positively correlated with PTE occurrence (r =0.282,P =0.008).The distributions of haplotype TGT had significant differences between PTE and control groups.This haplotype was positively correlated with PTE occurrence (r =0.239,P ＜ 0.001).Conclusions The rs216325 and rs1800378 loci variations in VWF gene are associated with PTE,rs216325 with genotype AA and rs1800378 with genotype TT.And haplotype TGT indicates a high risk of PTE onset.
