国际呼吸杂志
國際呼吸雜誌
국제호흡잡지
INTERNATIONAL JOURNAL OF RESPIRATION
2011年
4期
260-265
,共6页
缪雅芳%刘锦铭%乐军%程克斌%张奕杰
繆雅芳%劉錦銘%樂軍%程剋斌%張奕傑
무아방%류금명%악군%정극빈%장혁걸
肺血栓栓塞症%蛋白C%单核苷酸多态性%单倍体型
肺血栓栓塞癥%蛋白C%單覈苷痠多態性%單倍體型
폐혈전전새증%단백C%단핵감산다태성%단배체형
Pulmonary thromboembolism%Protein C%Single nucleotide polymorphism%Haplotype
目的 探讨蛋白C(PC)基因调控区3个位点的单核苷酸多态性及其构成的单倍体型与血浆PC水平及上海汉族人群肺血栓栓塞症(PTE)发病的相关性.方法 采用病例对照的研究方法,应用PCR-DNA直接测序法,在110例PTE患者和100名健康对照者中,对PC基因启动子区域的-1654C/T、-1641A/G以及5'-非翻译区-1476A/T位点多态性进行基因分型,血浆PC含量检测采用ELISA法.结果 ①PTE病例组合并有其他疾病及手术史发生率高于对照组(P＜0.01或P＜0.05),而在血栓栓塞家族史、心血管疾病家族史、外伤史、口服避孕药史、吸烟和饮酒史方面,两组之间差异无统计学意义.②两研究组间的PC基因-1654C/T位点的基因型分布无差异,而T等位基因频率在病例组相对较高,C等位基因频率则在对照组中较高,差异有统计学意义(P=0.021);而-1641A/G和-1476A/T位点的各基因型分布和其各自的等位基因频率在两组之间差异无统计学意义.③单倍体型分析显示,PC基因这三个多态性位点主要组成3种单倍体型,从主到次为-1654T/-1641A/-1476A、-1654C/-1641A/-1476A和-1654C/-1641G/-1476T,其中单倍体型TAA和CAA的频率分布在两组之间存在差异(P=0.021和P=0.043).④血浆PC含量的检测发现携带有TAA同时又未携带CAA者的血浆PC含量较携带有CAA同时未携带TAA者的血浆PC含量要低,但两组之间未达到显著性的差异.结论 PC基因调控区的位点多态性可能与上海汉族人群PTE的发病有关,但其是否为导致血浆PC水平高低的主要因素,有待进一步的证实.
目的 探討蛋白C(PC)基因調控區3箇位點的單覈苷痠多態性及其構成的單倍體型與血漿PC水平及上海漢族人群肺血栓栓塞癥(PTE)髮病的相關性.方法 採用病例對照的研究方法,應用PCR-DNA直接測序法,在110例PTE患者和100名健康對照者中,對PC基因啟動子區域的-1654C/T、-1641A/G以及5'-非翻譯區-1476A/T位點多態性進行基因分型,血漿PC含量檢測採用ELISA法.結果 ①PTE病例組閤併有其他疾病及手術史髮生率高于對照組(P＜0.01或P＜0.05),而在血栓栓塞傢族史、心血管疾病傢族史、外傷史、口服避孕藥史、吸煙和飲酒史方麵,兩組之間差異無統計學意義.②兩研究組間的PC基因-1654C/T位點的基因型分佈無差異,而T等位基因頻率在病例組相對較高,C等位基因頻率則在對照組中較高,差異有統計學意義(P=0.021);而-1641A/G和-1476A/T位點的各基因型分佈和其各自的等位基因頻率在兩組之間差異無統計學意義.③單倍體型分析顯示,PC基因這三箇多態性位點主要組成3種單倍體型,從主到次為-1654T/-1641A/-1476A、-1654C/-1641A/-1476A和-1654C/-1641G/-1476T,其中單倍體型TAA和CAA的頻率分佈在兩組之間存在差異(P=0.021和P=0.043).④血漿PC含量的檢測髮現攜帶有TAA同時又未攜帶CAA者的血漿PC含量較攜帶有CAA同時未攜帶TAA者的血漿PC含量要低,但兩組之間未達到顯著性的差異.結論 PC基因調控區的位點多態性可能與上海漢族人群PTE的髮病有關,但其是否為導緻血漿PC水平高低的主要因素,有待進一步的證實.
목적 탐토단백C(PC)기인조공구3개위점적단핵감산다태성급기구성적단배체형여혈장PC수평급상해한족인군폐혈전전새증(PTE)발병적상관성.방법 채용병례대조적연구방법,응용PCR-DNA직접측서법,재110례PTE환자화100명건강대조자중,대PC기인계동자구역적-1654C/T、-1641A/G이급5'-비번역구-1476A/T위점다태성진행기인분형,혈장PC함량검측채용ELISA법.결과 ①PTE병례조합병유기타질병급수술사발생솔고우대조조(P＜0.01혹P＜0.05),이재혈전전새가족사、심혈관질병가족사、외상사、구복피잉약사、흡연화음주사방면,량조지간차이무통계학의의.②량연구조간적PC기인-1654C/T위점적기인형분포무차이,이T등위기인빈솔재병례조상대교고,C등위기인빈솔칙재대조조중교고,차이유통계학의의(P=0.021);이-1641A/G화-1476A/T위점적각기인형분포화기각자적등위기인빈솔재량조지간차이무통계학의의.③단배체형분석현시,PC기인저삼개다태성위점주요조성3충단배체형,종주도차위-1654T/-1641A/-1476A、-1654C/-1641A/-1476A화-1654C/-1641G/-1476T,기중단배체형TAA화CAA적빈솔분포재량조지간존재차이(P=0.021화P=0.043).④혈장PC함량적검측발현휴대유TAA동시우미휴대CAA자적혈장PC함량교휴대유CAA동시미휴대TAA자적혈장PC함량요저,단량조지간미체도현저성적차이.결론 PC기인조공구적위점다태성가능여상해한족인군PTE적발병유관,단기시부위도치혈장PC수평고저적주요인소,유대진일보적증실.
Objective To investigate the association of single nucleotide polymorphism and haplotype of three sites in gene regulation region of protein C(PC) with plasma PC level and susceptibility to pulmonary thromboembolism (PTE) in Shanghai Hah population. Methods A case-control study was adopted. The genotype, allele and haplotype frequency of three polymorphic sites (-1654C/T,-1641A/G and -1476A/T) were determined and analyzed by direct sequencing in 110 patients with PTE and 100 healthy controls. The plasma PC level was detected by enzyme linked immunosorbent assay. group (P ＜ 0.01 or P ＜ 0.05). There was no statistical significance on the family history of thromboembolism and cardiovascular diseases, trauma history, history of oral contraceptives, smoking distribution of PC gene - 1654C/T site between the two groups. T allele frequency was higher in case group, C allele frequency was higher in control group. There was no statistical significance on genotype Haplotype analysis showed that three polymorphism sites of PC gene composed three kinds of haplotype ( - 1654T/- 164 1A/- 1476A, - 1654C/- 164 1A/- 1476A and - 1654C/- 1641G/- 1476T ). There was statistical significance on frequency distribution of TAA and CAA haplotypes between the two groups CAA was lower than that in subjects carried CAA and non-carried TAA, but there was no statistical significance between the two groups. Conclusions PC gene regulatory region polymorphism may be associated with the susceptibility to PTE in Shanghai Han population, but it is further confirmed that the association of PC gene polymorphism with plasma PC level.
