CAJ | 학술논문

目的：探讨凝血酶原基因 G20210A（FⅡG20210A）和凝血因子 V基因 Leiden 突变（FVL）单核苷酸多态性（SNP）及活化蛋白C抵抗（APCR）与维吾尔族（维族）静脉血栓栓塞症（VTE）的关系。方法选择2008年1月－2013年6月在新疆医科大学第一附属医院住院的维族 VTE患者178例（病例组）及本院同期同民族住院体检者217例（健康对照组）。采用聚合酶链式反应-限制性片段长度多态性（PCR-PFLP）技术检测 FⅡG20210A 和FVL多态性，应用凝固法于SYSMEX CS-2000型全自动血液凝固仪检测APCR，并分析FⅡG20210A和FVL多态性及 APCR与 VTE的关联性。结果（1）所有受检对象均未检出 FⅡG20210A基因突变，其变异频率为0。（2）健康对照组中只有 GG基因型，而未见 GA和 AA基因型，A等位基因频率为0。病例组中 FVL多态性 GG型与GA／AA型分布频率差异有统计学意义（P ＝0．018），且A等位基因分布频率差异亦有统计学意义（P ＝0．018）。（3）病例组 APCR阳性率较健康对照组高（11．24％与4．60％），其差异有统计学意义（P ＜0．05）。但 VTE患者FVL多态性各基因型间 APCR阳性率比较差异无统计学意义（P ＞0．05）。（4）非条件 logistic回归分析后，肥胖（OR＝1．599，95％CI 1．383～1．849，P ＝0．000）、高脂血症（OR ＝1．087，95％CI 1．035～1．141，P ＝0．001）和APCR阳性（OR ＝1．922，95％CI 1．880～5．561，P ＝0．033）是 VTE患者的独立危险因素。结论凝血酶原G20210A基因突变在新疆维族 VTE患者及正常人群中罕见甚至缺如。APCR及 FVL多态性是维吾尔族 VTE患者的危险因素，但 FVL多态性不是引起 APCR的主要因素。
목적：탐토응혈매원기인 G20210A（FⅡG20210A）화응혈인자 V기인 Leiden 돌변（FVL）단핵감산다태성（SNP）급활화단백C저항（APCR）여유오이족（유족）정맥혈전전새증（VTE）적관계。방법선택2008년1월－2013년6월재신강의과대학제일부속의원주원적유족 VTE환자178례（병례조）급본원동기동민족주원체검자217례（건강대조조）。채용취합매련식반응-한제성편단장도다태성（PCR-PFLP）기술검측 FⅡG20210A 화FVL다태성，응용응고법우SYSMEX CS-2000형전자동혈액응고의검측APCR，병분석FⅡG20210A화FVL다태성급 APCR여 VTE적관련성。결과（1）소유수검대상균미검출 FⅡG20210A기인돌변，기변이빈솔위0。（2）건강대조조중지유 GG기인형，이미견 GA화 AA기인형，A등위기인빈솔위0。병례조중 FVL다태성 GG형여GA／AA형분포빈솔차이유통계학의의（P ＝0．018），차A등위기인분포빈솔차이역유통계학의의（P ＝0．018）。（3）병례조 APCR양성솔교건강대조조고（11．24％여4．60％），기차이유통계학의의（P ＜0．05）。단 VTE환자FVL다태성각기인형간 APCR양성솔비교차이무통계학의의（P ＞0．05）。（4）비조건 logistic회귀분석후，비반（OR＝1．599，95％CI 1．383～1．849，P ＝0．000）、고지혈증（OR ＝1．087，95％CI 1．035～1．141，P ＝0．001）화APCR양성（OR ＝1．922，95％CI 1．880～5．561，P ＝0．033）시 VTE환자적독립위험인소。결론응혈매원G20210A기인돌변재신강유족 VTE환자급정상인군중한견심지결여。APCR급 FVL다태성시유오이족 VTE환자적위험인소，단 FVL다태성불시인기 APCR적주요인소。
Objective To investigate the association between the G20210A mutation of Prothrombin gene (FII G20210A),factor V Leiden mutation (FVL)and activated protein C resistance (APCR)in Uyghur patients with venous thromboembolism (VTE)in Xinjiang.Methods 178 Uyghur ethnic diagnosed with VTE were admitted by First Affiliated Hospital of Xinjiang Medical University between January 2008 and June 2013,and 217 healthy Uyghur were studied as controls.Polymerase chain reaction-restriction frag-ment length polymorphism (PCR-RFLP)was applied to detect the polymorphism of FVL,FII G20210A and coagulation assay were adopted to determine APCR,and the association of FVL and APCR with VTE was analyzed.Results The mutation of G20210A prothrombin gene were not detectable between any of <br> the VTE patients and controls in Uyghur population.In VTE groups,FVL polymorphism GG and GA/AA gene types distribution frequency had significant differences (P =0.018),and A allele frequency difference was also significant (P =0.018).The mutation of FVL were not detectable in controls.The APCR positive rate in VTE groups were higher than that in controls (11.24% vs.4.60%;).And there were significant differences in APCR positive rate between VTE patients and control groups (P <0.05). However,there were no significant differences in APCR positive rate of the FVL genotypes in VTE pa-tients (P >0.05).Multifactor logistic regression analysis showed that,obesity (OR =3.189,95%CI 1.255-8.102,P =0.015),hyperlipidemia (OR=6.430,95%CI 1.370-30.190,P =0.018)and APCR (OR=1.922,95%CI 1.880-5.561,P =0.033)were independent risk factors for Uygur ethnic with VTE.Conclusion The mutation of G20210A prothrombin gene were not detectable between any of the VTE patients and controls in Uyghur ethnic.APCR and FVL mutation were independent risk factors for VTE patients,but FVL mutation may not be an independent factor for APCR.