下肢深静脉血栓形成与亚甲基四氢叶酸还原酶C677T的相关性研究  

Correlation between deep venous thrombosis of lower extremity and methylenetetrahydrofolate reductase C677T

作　　者：冯涛[1] 李晶[2] 杜曼·巴戈达提 郑殿宇 居来提·艾力[1] 耿中利[1] Feng Tao;Li Jing;Duman·Bagdat;Zheng Dianyu;Julaiti·Aili;Geng Zhongli(Second Department of General Surgery,Affiliated Hospital of Traditional Chinese Medicine,Xinjiang Medical University,Urumqi 830000,China;Department of Endocrinology,Affiliated Hospital of Traditional Chinese Medicine,Xinjiang Medical University,Urumqi 830000,China)

机构地区：[1]新疆医科大学附属中医医院普外二科,乌鲁木齐830000 [2]新疆医科大学附属中医医院内分泌科,乌鲁木齐830000

出　　处：《国际外科学杂志》2022年第11期746-751,I0004,共7页International Journal of Surgery

基　　金：新疆维吾尔自治区自然科学基金项目(2019D01C167)。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T多态性在下肢深静脉血栓形成(DVT)发病过程中的机制。方法采用回顾性对照研究方法,选取2019年8月—2021年8月新疆医科大学附属中医医院收治的64例下肢DVT患者(DVT组)和同期96例健康体检人群(对照组),比较两组研究对象的临床表现和相关检测项目的差异。凝血检测项目包括D-二聚体、纤维蛋白原、凝血酶原时间、凝血酶原活动度、凝血酶原时间-国际标准化比值。采用酶联免疫吸附试验(ELISA)检测血浆同型半胱氨酸(Hcy)和可溶性内皮细胞蛋白C受体(sEPCR)水平,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测MTHFR基因C677T位点的多态性。正态分布的计量资料以均数±标准差(±s)表示,组间比较采用t检验;偏态分布的计量资料以中位数(四分位间距)[M(Q1,Q3)]表示,组间比较采用秩和检验;计数资料组间比较采用χ^(2)检验或Fisher确切概率法。结果DVT组患者出现肢体皮肤发红、肿胀、皮温升高、局部触痛、皮肤破溃、皮肤张力、色素沉着、肢体活动及感觉障碍症状的比例均高于对照组,差异有统计学意义(P<0.05);DVT组患者的凝血酶原时间-国际标准化比值[0.98(0.95,1.04)比1.05(1.00,1.13)]、纤维蛋白原[2.76(2.31,3.30)mg/L比3.36(2.74,4.35)mg/L]、D-二聚体[0.52(0.38,0.62)mg/L比4.73(2.44,12.05)mg/L]、Hcy[(1639.03±390.29)ng/mL比(2423.03±631.95)ng/mL]和sEPCR[(108.62±25.07)ng/mL比(137.79±26.23)ng/mL]水平均较对照组显著升高,差异有统计学意义(P<0.05);凝血酶原活动度[90.70%(75.80%,100.00%)比103.00%(93.00%,112.50%)]均较对照组显著降低,差异有统计学意义(P<0.05)。DVT组患者的MTHFR C677T位点CC、CT、TT基因型频率和等位基因频率与对照组比较,有变化趋势,但两组相比差异无统计学意义(P>0.05)。结论DVT患者MTHFR C677T位点中TT突变具有升高趋势,可能会促进Hcy的表达水平,高表达的Hcy和sEPCObjective To investigate the mechanism of methyltetrahydrofolate reductase(MTHFR)C677T polymorphism in the pathogenesis of lower extremity deep vein thrombosis(DVT).Methods Used retrospective controlled study method,a total of 64 DVT patients(DVT group)and 96 healthy people(control group)were enrolled in the Affiliated Hospital of Traditional Chinese Medicine,Xinjiang Medical University from August 2019 to August 2021.Clinical manifestations and related detection,including D-dimer,fibrinogen,prothrombin time,prothrombin activity and prothrombin time-international normalized ratio of the subjects were recorded,and plasma homocysteine(Hcy)and soluble endothelial cell protein C receptor(sEPCR)were detected by enzyme linked immunosorbent assay(ELISA).The polymorphism of C677T locus of MTHFR gene was detected by polymerase chain reaction-restricted fragment length polymor-phism(PCR-RFLP),and the differences of blood indexes and MTHFR genotypes between the two groups were compared.Measurement data with normal distribution were represented as mean±standard deviation(±s),and comprison between groups was conducted using the t-test;the skewness data were expressed by M(Q1,Q3),and rank-sum test was used for inter-group comparison.comprison between groups of count data was conducted using the chi-square test or Fisher exact probability.Results Compared with the control group,DVT group showed more symptoms of limb skin redness,limb swelling,skin temperature rise,local tenderness,skin rupture,skin tension,pigmentation,limb movement and sensory disturbance,the difference were statistically significant(P<0.05);the prothrombin time-international normalized ratio[0.98(0.95,1.04)vs 1.05(1.00,1.13)],fibrinogen[2.76(2.31,3.30)mg/L vs 3.36(2.74,4.35)mg/L],D-dimer[0.52(0.38,0.62)mg/L vs 4.73(2.44,12.05)mg/L],Hcy[(1639.03±390.29)ng/mL vs(2423.03±631.95)ng/mL]and sEPCR[(108.62±25.07)ng/mL vs(137.79±26.23)ng/mL]in DVT group were significantly higher than those in control group,the difference were statistically significant(P<0.05);th

关 键 词：静脉血栓形成 亚甲基四氢叶酸还原酶 多态性 单核苷酸 高半胱氨酸 

分 类 号：R543.6[医药卫生—心血管疾病]