纤维蛋白原β启动子区单倍型对特发型下肢深静脉血栓的影响  

Association between haplotypes in the promoter region of fibrinogen gene β and idiopathic deep venous thrombosis

作　　者：韩胜斌[1] 董坚[1] 金辉[1] 杨斌[1] 王友礼[1] 

机构地区：[1]昆明医科大学第一附属医院血管外科,650032

出　　处：《中华实验外科杂志》2015年第2期261-264,共4页Chinese Journal of Experimental Surgery

基　　金：云南省应用基础面上项目（2010ZC123）

摘　　要：目的 观察纤维蛋白原β（FGB）启动子区单倍型对特发型下肢深静脉血栓（IDVT）的影响.方法 IDVT组及健康对照组各120例.采用启动子区完整测序技术及聚合酶链反应-限制性片段长度多态性（PCR-RFLP）双重检测纤维蛋白原β链基因启动子区-1 420G/A、-993 C/T、-854G/A、-455 G/A、-249C/T和-148C/T单核苷酸多态性（SNP）及基因型,对上述SNP连锁不平衡分析并构建单倍型模型.结果-993 C/T与-455 G/A、-993 C/T与-148C/T、-455 G/A与-148C/T之间存在较强的连锁不平衡关系（r2分别为0.699、0.509和0.556）;构建出8种单倍型模型：单倍型H3、H6在病例组中的频率高于对照组[比值比（OR）分别为32.085和1.896,P＜0.05];单倍型H1、H4、H5和H7在对照组中的频率高于病例组（OR值分别为0.025、0.119、0.644和0.383,P ＜0.05）;其余单倍型（H2和H8）在两组之间差异无统计学意义（P＞0.05）.结论 单倍型H3、H6可能是下肢深静脉血栓（DVT）的危险因素;单倍型H1、H4、H5和H7可能是DVT的保护因素.Objective To investigate the relationship between haplotypes in the promoter region of fibrinogen gene β and idiopathic deep venous thrombosis （IDVT）.Methods A prospective analysis was performed from both IDVT group and control group （n =120 each）.Dual inspections including both long segmental gene sequencing technique and polymerase chain reaction-restricted fragment length polymorphism （PCR-RFLP） were adopted involving the promoter region of fibrinogen gene β.Possible single nucleotide polymorphism （SNP） （-1 420G/A,-993C/T,-854G/A,-455G/A,-249C/T and -148C/T） in this region were detected,followed by genetype determination.In addition,linkage disequilibrium （LD） and haplotypes were analyzed by EH ＋ program.Results A stronger LD was confirmed between-993C/T and-455G/A （r2 =0.699） ; between-993C/T and-148C/T （r2 =0.509） ; between-455G/A and-148C/T （r2 =0.556）; 8 species of haplotype modes were constructed：Haplotypes H3 and H6 presented a higher incidence in IDVT group [odds ratio （OR） =32.085/1.896,respectively,all P 〈0.05]; Haplotypes H1,H4,H5 and H7 presented a higher incidence in control group （OR =0.025,0.119,0.644,0.383,respectively,all P 〈0.05） ; haplotypes H2 and H8 showed no discrepancy （all P 〉 0.05）.Conclusion Haplotypes H3 and H6 might be susceptive to deep venous thrombosis （DVT） attack; Haplotypes H1,H4,H5 and H7 might be protective for DVT onset.

关 键 词：单倍型 纤维蛋白原β 单核苷酸多态性 下肢深静脉血栓形成 

分 类 号：R543.6[医药卫生—心血管疾病]