中华普通外科杂志
中華普通外科雜誌
중화보통외과잡지
CHINESE JOURNAL OF GENERAL SURGERY
2015年
4期
272-275
,共4页
韩胜斌%董坚%金辉%杨斌%尹芳%王友礼
韓勝斌%董堅%金輝%楊斌%尹芳%王友禮
한성빈%동견%금휘%양빈%윤방%왕우례
静脉血栓形成%纤维蛋白原%多态性,单核苷酸%Logistic模型%启动区,遗传
靜脈血栓形成%纖維蛋白原%多態性,單覈苷痠%Logistic模型%啟動區,遺傳
정맥혈전형성%섬유단백원%다태성,단핵감산%Logistic모형%계동구,유전
Venous thrombosis%Fibrinogen%Polymorphism,single nucleotide%Logistic models%Promoter regions,genetic
目的 探寻纤维蛋白原基因β(fibrinogen gene β,FGB)启动子区可能存在的单核苷酸多态性(single nucleotide polymorphism,SNP),并揭示其对特发型下肢深静脉血栓(idiopathic deep venous thrombosis,IDVT)的影响. 方法 前瞻性研究IDVT组及健康对照组各120例.对受试者纤维蛋白原Bβ启动子区完整测序及限制性长度多态性法(restriction fragment length polymorphsm,RFLP)双重检测,探寻可能存在的SNP并行Hardy-Weinberg遗传平衡度检验、连锁不平衡分析;最后,比较2组基因型频率并进行多因素Logistic回归分析.结果 FGB启动子区存在6种SNP,即-148C/T,-249C/T,-455G/A,-854G/A,-993C/T和-1420G/A;-993 C/T与-455G/A(r2=0.699)、-993C/T与-148C/T(r2 =0.509)、-455G/A与-148C/T(r2=0.556)之间存在较强的连锁不平衡关系;2组-148C/T、-249C/T、-455G/A和-1420G/A的基因型频率差异均有统计学意义(均P＜0.05).结论 纤维蛋白原每增加1个U,IDVT的发病风险相应增加4.579倍;-148T、-455G、-1420A等位基因是IDVT的危险因素;-993C/T可能通过与-455G/A、-148C/T的连锁不平衡方式对IDVT易感性产生间接影响.
目的 探尋纖維蛋白原基因β(fibrinogen gene β,FGB)啟動子區可能存在的單覈苷痠多態性(single nucleotide polymorphism,SNP),併揭示其對特髮型下肢深靜脈血栓(idiopathic deep venous thrombosis,IDVT)的影響. 方法 前瞻性研究IDVT組及健康對照組各120例.對受試者纖維蛋白原Bβ啟動子區完整測序及限製性長度多態性法(restriction fragment length polymorphsm,RFLP)雙重檢測,探尋可能存在的SNP併行Hardy-Weinberg遺傳平衡度檢驗、連鎖不平衡分析;最後,比較2組基因型頻率併進行多因素Logistic迴歸分析.結果 FGB啟動子區存在6種SNP,即-148C/T,-249C/T,-455G/A,-854G/A,-993C/T和-1420G/A;-993 C/T與-455G/A(r2=0.699)、-993C/T與-148C/T(r2 =0.509)、-455G/A與-148C/T(r2=0.556)之間存在較彊的連鎖不平衡關繫;2組-148C/T、-249C/T、-455G/A和-1420G/A的基因型頻率差異均有統計學意義(均P＜0.05).結論 纖維蛋白原每增加1箇U,IDVT的髮病風險相應增加4.579倍;-148T、-455G、-1420A等位基因是IDVT的危險因素;-993C/T可能通過與-455G/A、-148C/T的連鎖不平衡方式對IDVT易感性產生間接影響.
목적 탐심섬유단백원기인β(fibrinogen gene β,FGB)계동자구가능존재적단핵감산다태성(single nucleotide polymorphism,SNP),병게시기대특발형하지심정맥혈전(idiopathic deep venous thrombosis,IDVT)적영향. 방법 전첨성연구IDVT조급건강대조조각120례.대수시자섬유단백원Bβ계동자구완정측서급한제성장도다태성법(restriction fragment length polymorphsm,RFLP)쌍중검측,탐심가능존재적SNP병행Hardy-Weinberg유전평형도검험、련쇄불평형분석;최후,비교2조기인형빈솔병진행다인소Logistic회귀분석.결과 FGB계동자구존재6충SNP,즉-148C/T,-249C/T,-455G/A,-854G/A,-993C/T화-1420G/A;-993 C/T여-455G/A(r2=0.699)、-993C/T여-148C/T(r2 =0.509)、-455G/A여-148C/T(r2=0.556)지간존재교강적련쇄불평형관계;2조-148C/T、-249C/T、-455G/A화-1420G/A적기인형빈솔차이균유통계학의의(균P＜0.05).결론 섬유단백원매증가1개U,IDVT적발병풍험상응증가4.579배;-148T、-455G、-1420A등위기인시IDVT적위험인소;-993C/T가능통과여-455G/A、-148C/T적련쇄불평형방식대IDVT역감성산생간접영향.
Objective To probe the association between possible single nucleotide polymorphism (SNP) in the FGB promoter region and idiopathic deep venous thrombosis.Methods A prospective analysis was performed in both IDVT group and control group (120 cases each) followed by a duplex examination using gene sequencing technique and restriction fragment length polymorphism (RFLP) in the promoter region of fibrinogen gene β.Possible SNPs in this region were detected arranged before HardyWeinberg equilibrium test and Linkage disequilibrium (LD) analyses.Ultimately,we compared the genotype frequencies between the two groups and undertook a multiple Logistic regression.Results Six kinds of SNPs were determined in the promoter region of β-fibrinogen gene:-148C/T,-249C/T,-455G/A,-854G/A,-993C/T and-1420G/A.A stronger linkage disequilibrium was confirmed between-993C/T and -455G/A (r2 =0.699) ;-993C/T and-148C/T (r2 =0.509) ;-455G/A and-148C/T (r2 =0.556).Statistical differences of genotype frequencies between two groups were observed in-148C/T,-249C/T,-455G/A and-1420G/A polymorphisms (all P ＜ 0.05).Conclusions The risk of IDVT was 4.579 times higher with every 1 g/L increase of fibrinogen concentration.Allele-148T,-455G and-1420A are IDVT risk factors.-993C/T may indirectly affect IDVT through linkage disequilibrium with-455G/A and-148C/T.
