C677T methylenetetrahydrofolate reductase gene polymorphism as a risk factor involved in venous thromboembolism: A population-based case-control study

Yin, Guancheng; Lü, Yan; Zhang, Zhifeng; Chen, Kebiao; Jin, Xing

doi:10.3892/mmr.2012.1086

Cited by 12 publications

(10 citation statements)

References 23 publications

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“…The frequency of MTHFR 677TT genotype was 28.38% in Uygur VT patients and 27.03% in Han VT patients, versus 12.79% and 14.92% in respective control individuals. Similar results were reported by Yin et al in a case-control study conducted in Shandong Province in China [38]. Also, Jang et al postulated that the presence of MTHFR 677TT genotype was associated with an increased risk of VT in Koreans [39].…”

Section: Prosupporting

confidence: 83%

Methylenetetrahydrofolate reductase polymorphisms as possible risk factors of venous thrombosis – too weak to take care, too frequent to be ignored…

Krejner¹,

Grzela²

2014

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Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in the metabolism of homocysteine. It has been found that an increased concentration of homocysteine in circulating blood (hyperhomocysteinaemia) may lead to blood vessel damage, which may further be associated with higher risk of various cardiovascular disorders, including venous thrombosis (VT). Among various factors identified to be responsible for hyperhomocysteinaemia, an important role is played by the genetically determined decrease of MTHFR enzymatic activity. This decrease may result from several nucleotide polymorphisms (SNPs) of the gene encoding for MTHFR, with the two most important SNP variants: C677T and A1298C. However, the exact role of the mentioned polymorphisms in the pathogenesis of venous thrombosis remains unclear, especially since the results of several studies conducted so far were inconsistent and did not confirm univocally any such direct relationship. In this review the authors aim to explain the reason of such a discrepancy. Moreover, the authors try to answer the question, whether both mentioned polymorphic variants of the MTHFR gene (C677T and A1298C) are in fact considerable risk factors for venous thrombosis. Based on various pro and contra published so far, the authors conclude that polymorphisms of MTHFR, although recognised as rather weak single risk factors of VT, cannot be underestimated and still require our attention.

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Section: Prosupporting

confidence: 83%

Methylenetetrahydrofolate reductase polymorphisms as possible risk factors of venous thrombosis – too weak to take care, too frequent to be ignored…

Krejner¹,

Grzela²

2014

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“…Yin et al . [ 12 ] reported that the frequency distribution of the TT genotype of MTHFR in the venous thrombosis group was higher than in the control group and the TT genotype of MTHFR C677T may be a genetic risk factor for DVT. Hyperhomocysteinemia is considered an independent risk factor for venous thrombotic disease.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Risk Factors for Lower-limb Deep Venous Thrombosis in Old Patients after Knee Arthroplasty

Kang

Jiang

2015

Chinese Medical Journal

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Background:Deep venous thrombosis (DVT) is a common complication of arthroplasty in old patients. We analyzed risk factors for lower-limb DVT after arthroplasty in patients aged over 70 years to determine controllable risk factors.Methods:This was a retrospective study of 1,025 patients aged >70 years treated with knee arthroplasty at our hospital between January 2009 and December 2013. Of 1,025 patients, 175 had postoperative lower-limb DVT. We compared medical history, body mass index (BMI), ambulatory blood pressure, preoperative and postoperative fasting blood glucose (FBG), preoperative blood total cholesterol, triglyceride, high- and low-density lipoprotein cholesterol, and preoperative homocysteine (Hcy) between thrombus and non-thrombus groups. B-mode ultrasonography was used to detect lower-limb DVT before the operation and 7 days after the operation in all patients. Logistic regression analysis was used to determine risk factors for DVT.Results:Incidence of diabetes (P = 0.014), BMI (P = 0.003), preoperative FBG (P = 0.004), postoperative FBG (P = 0.012), and preoperative Hcy (P < 0.001) were significantly higher in the thrombus group. A significantly greater proportion of patients in the non-thrombus group had early postoperative activity (P < 0.001) and used a foot pump (P < 0.001). Operative duration was significantly longer in the thrombus group (P = 0.012). Within the thrombus group, significantly more patients had bilateral than unilateral knee arthroplasty (P < 0.01). Multivariate logistic analysis revealed BMI, preoperative Hcy, postoperative FBG, long operative duration, bilateral knee arthroplasty, and time to the activity after the operation to be predictive factors of DVT. At 6-month follow-up of the thrombus group, 4.7% of patients had pulmonary embolism and 18.8% had recurrent DVT; there were no deaths.Conclusions:Obesity, inactivity after operation, elevated preoperative Hcy and postoperative FBG, long operative duration, and bilateral knee arthroplasty were risk factors for DVT in patients aged over 70 years.

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“…DNA analysis revealed the heterozygote form of methylenetetrahydrofolate reductase (MTHFR) mutation. This hereditary disorder is often connected to folic acid and vitamin B12 metabolism, and if patient has a normal level of homocysteine it is not clinically significant for the hemostatic disorder [12,13]. …”

Section: Discussionmentioning

confidence: 99%

Sticky platelets syndrome in a young patient with massive pulmonary embolism

et al. 2013

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Patient:Female, 51Final Diagnosis:Sticky platelets syndromeSymptoms:Pulmonary embolismMedication:—Clinical Procedure:ThrombolysisSpecialty:HematologyObjective:Disease of unknown ethiologyBackground:Sticky platelets syndrome (SPS) is an inherited thrombophilia characterized by platelet hyperaggregability, which can lead to the higher risk of thrombosis. The etiology of SPS remains unclear, but several gene polymorphisms have been recently studied and autosomal dominant heredity is suspected. Although SPS is traditionally connected with arterial thrombosis, several cases of SPS as a cause of venous thromboembolism have been described.Case Report:We report the case of a 51-year-old apparently healthy woman with massive pulmonary embolism, who required thrombolytic therapy. In this patient SPS was identified as the only condition leading to higher risk of developing thromboembolic disease.Conclusions:Although at present few physicians have practical experience with SPS, this syndrome may lead to serious health problems or even death. The presented case points to the benefit of SPS diagnostics in standard screening of inherited thrombophilia for effective prophylaxis and treatment in patients with venous thromboembolism.

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C677T methylenetetrahydrofolate reductase gene polymorphism as a risk factor involved in venous thromboembolism: A population-based case-control study

Cited by 12 publications

References 23 publications

Methylenetetrahydrofolate reductase polymorphisms as possible risk factors of venous thrombosis – too weak to take care, too frequent to be ignored…

Methylenetetrahydrofolate reductase polymorphisms as possible risk factors of venous thrombosis – too weak to take care, too frequent to be ignored…

Analysis of Risk Factors for Lower-limb Deep Venous Thrombosis in Old Patients after Knee Arthroplasty

Sticky platelets syndrome in a young patient with massive pulmonary embolism

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