G-33a mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels

Li, Yi‐Heng; Chen, Jyh-Hong; Wu, Hua‐Lin; Shi, Guey‐Yueh; Huang, Huey-Chun; Chao, Ting-Hsing; Tsai, Wei-Chuan; Tsai, Liang‐Miin; Guo, How‐Ran; Wu, Wen‐Shiann; Chen, Zhih‐Cherng

doi:10.1016/s0002-9149(99)00597-4

Cited by 51 publications

(46 citation statements)

References 28 publications

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“…Interestingly, both Ϫ33G/A mutations were found in Asians, pointing to a polymorphic site in this population. This idea was recently confirmed by Li et al, 18 who found a 15% frequency of this mutation in Han Chinese subjects of Mongolian origin. Moreover, Li et al also found evidence that the GϪ33A mutation was significantly associated with coronary artery disease.…”

supporting

confidence: 53%

Thrombomodulin Promoter Mutations, Venous Thrombosis, and Varicose Veins

Flem

Mennen

Aubry

et al. 2001

ATVB

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Abstract-We analyzed the distal promoter region of the thrombomodulin (TM) gene (nucleotides Ϫ300 to Ϫ2052) in subjects from the Paris Thrombosis Study (PATHROS), a French case-control study of venous thrombosis, to identify polymorphisms that might modify TM gene expression. Eight novel mutations were found in the 40 DNA samples initially screened. Two of these mutations (Ϫ1748G/C and Ϫ1208/Ϫ1209 del TT) were frequent. One rare transition (Ϫ1166G/A) might have functional consequences owing to its position. These 3 mutations were screened for in the entire study population of 327 patients and 398 controls. None of the 3 was significantly associated with thrombosis. Interestingly, the Ϫ1208/Ϫ1209 TT deletion was associated with varicose veins in the patients. This mutation was in tight linkage disequilibrium with the ϩ1418 C/T change in the coding sequence, a known polymorphism that predicts an

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supporting

confidence: 53%

Thrombomodulin Promoter Mutations, Venous Thrombosis, and Varicose Veins

Flem

Mennen

Aubry

et al. 2001

ATVB

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“…Furthermore, it was demonstrated that this mutation is associated with CAD in Asian patients. 23 A recurring missense mutation in the TM coding sequence was also identified in the above screening investigation. This was a mutation predicting Ala25Thr substitution and its significance has been investigated subsequently in a large case-control study, Study of Myocardial Infarction Leiden (SMILE).…”

Section: Introductionmentioning

confidence: 90%

Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function

Kunz

Öhlin

Adami

et al. 2002

Blood

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“…Exclusion criteria included (1) documented malignancy, rheumatoid arthritis, renal insufficiency (serum creatinine > 1.5 mg/dl or creatinine clearance < 50 ml/ min), and active infection; (2) acute myocardial infarction (or acute coronary syndrome with positive cardiac troponin) < 7 days. Coronary risk factors, defined elsewhere, 6 were reviewed in all study participants. All study subjects gave written informed consent.…”

Section: Study Populationmentioning

confidence: 99%

“…Accordingly, decreased expression and increased shedding of the membrane TM are expected to participate in the processes of vascular atherogenesis, remodeling, and thrombus formation. Plasma levels of soluble TM have been reported to correlate with peripheral atherosclerosis 4 and coronary artery disease 5,6 in humans. Percutaneous transluminal coronary angioplasty and coronary stenting have been widely used for decades in patients with coronary artery disease.…”

Section: Introductionmentioning

confidence: 99%

Elevation of the soluble thrombomodulin levels is associated with inflammation after percutaneous coronary interventions

Chao¹,

Li²,

Tsai³

et al. 2004

Clinical Cardiology

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SummaryBackground: Thrombomodulin (TM) is an endothelial cell surface thrombin-binding protein with anticoagulation ability by thrombin-mediated activation of protein C. An increase of plasma soluble TM level is reported to be associated with severity and worse outcome of coronary artery disease.Hypothesis: This prospective study investigated the relation of the elevated levels of plasma soluble TM and inflammatory and myonecrotic markers in patients undergoing percutaneous coronary intervention (PCI).Methods: Plasma levels of soluble TM, C-reactive protein (CRP), and creatine kinase and its MB isoenzyme were measured before and after PCI in 100 patients undergoing PCIs.Results: Peak TM levels after PCIs were significantly higher than baseline (3.39 ± 1.63 vs. 2.90 ± 1.57 ng/ml, p < 0.001). The peak TM levels after PCIs correlated significantly with

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G-33a mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels

Cited by 51 publications

References 28 publications

Thrombomodulin Promoter Mutations, Venous Thrombosis, and Varicose Veins

Thrombomodulin Promoter Mutations, Venous Thrombosis, and Varicose Veins

Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function

Elevation of the soluble thrombomodulin levels is associated with inflammation after percutaneous coronary interventions

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