MTHFR和PAI-1基因多态性与2型糖尿病患者下肢深静脉血栓发生风险的相关性研究  

Correlation between Polymorphisms of MTHFR and PAI-1 Genes and Lower Extremity Deep Vein Thrombosis in Patients with Type 2 Diabetes Mellitus

作　　者：张建军 靳志雄 胡常晖 黄秀萍 ZHANG Jianjun;JIN Zhixiong;HU Changhui;HUANG Xiuping(Department of Emergency,the First Hospital of Zhangjiakou City,Zhangjiakou,Hebei 075000,China;Department of General Surgery,the First Hospital of Zhangjiakou City,Zhangjiakou,Hebei 075000,China;Department of Nephrology,the First Hospital of Zhangjiakou City,Zhangjiakou,Hebei 075000,China)

机构地区：[1]张家口市第一医院急诊科,河北张家口075000 [2]张家口市第一医院普外一科,河北张家口075000 [3]张家口市第一医院肾内科,河北张家口075000

出　　处：《临床误诊误治》2024年第18期59-63,75,共6页Clinical Misdiagnosis & Mistherapy

基　　金：河北省医学科学研究课题计划项目(20232074)。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T突变和纤溶酶原激活物抑制物-1(PAI-1)4G/5G基因多态性与2型糖尿病患者下肢深静脉血栓(DVT)发生风险的相关性。方法对2022年5月至2023年4月收治的240例2型糖尿病患者的MTHFR和PAI-1基因型进行分析。依据是否发生DVT分为非DVT组57例和DVT组183例。利用PCR-RFLP检测这2种基因的多态性,收集2组患者的临床资料,比较2组MTHFR C677T和PAI-14G/5G基因多态性、不同MTHFR C677T基因型同型半胱氨酸水平,分析下肢DVT发生的风险因素。结果DVT组中吸烟患者比例高于非DVT组,D-二聚体升高患者占比高于非DVT组(P<0.01)。DVT组MTHFR C677T TT基因型频率与非DVT组比较差异无统计学意义(P>0.05)。DVT组中PAI-14G4G基因型频率显著高于非DVT组(P<0.01)。携带MTHFR C677T TT基因型的患者同型半胱氨酸水平显著高于非携带者(P<0.05),DVT组中TT基因型同型半胱氨酸水平高于非DVT组(P<0.05)。携带MTHFR C677T TT和PAI-14G4G基因型的2型糖尿病患者发生下肢DVT的风险显著增加,OR值为7.33,排除环境因素影响后,OR'值为12.65。结论PAI-14G4G基因型是2型糖尿病患者发生下肢DVT的独立风险因素;MTHFR C677T TT和PAI-14G4G基因型同时存在时,2型糖尿病患者发生下肢DVT的风险提高。Objective To investigate the correlation of methylene tetrahydrofolate reductase(MTHFR)C677T mutation and 4G/5G polymorphism of plasminogen activator inhibitor-1(PAI-1)gene with the risk of lower extremity deep vein thrombosis(LEDVT)in patients with type 2 diabetes mellitus(T2DM).Methods The MTHFR and PAI-1 genotypes of 240 patients with T2DM admitted between May 2022 and April 2023 were analyzed.According to presence or absence of DVT,they were divided into non-DVT group(n=57)and DVT group(n=183).The polymorphisms of these two genes were detected by PCR-RFLP,and clinical data of the two groups were collected.The MTHFR C677T and PAI-14G/5G gene polymorphisms and homocysteine levels of different MTHFR C677T genotypes were compared between the two groups,and the risk factors for the occurrence of LEDVT were analyzed.Results The proportion of smoking patients in DVT group was higher than that in non-DVT group,and the proportion of patients with elevated D-dimer was higher than that in non-DVT group(P<0.01).There was no significant difference in the frequency of MTHFR C677T TT genotype between DVT group and non-DVT group(P>0.05).The frequency of PAI-14G4G genotype in DVT group was significantly higher than that in non-DVT group(P<0.01).Plasma homocysteine levels were significantly higher in DVT group with MTHFR C677T TT genotype than in non-DVT group(P<0.05).Patients with T2DM carrying the MTHFR C677T TT and PAI-14G4G genotypes had a significantly increased risk of LEDVT with an OR value of 7.33 and an OR value of 12.65 after controlling for environmental factors.Conclusion PAI-14G4G genotype is an independent risk factor for the occurrence of LEDVT in diabetic patients.When both MTHFR C677T TT and PAI-14G4G genotypes are present,the risk of LEDVT is significantly increased in T2DM patients.

关 键 词：糖尿病 亚甲基四氢叶酸还原酶 纤溶酶原激活物抑制物-1 深静脉血栓 基因多态性 TT基因型 4G4G基因型 

分 类 号：R587.1[医药卫生—内分泌]