Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Protein S (PS) deficiency is associated with a 10-fold increased risk of venous thromboembolism (VTE), but its diagnosis is quite difficult and complicated. In this study, we identified 53 unrelated pedigrees with PS deficiency in China. Data of their clinical characteristics and laboratory examinations were collected. Genetic analysis of PROS1 including direct sequencing, copy number variant detection and messenger ribonucleic acid analysis was performed in probands and related family members. Of these 53 probands, 52.8% (28/53) experienced multi-site and/or recurrent thrombotic episodes, mainly manifested as deep venous thrombosis and/or pulmonary embolism (82.7%). Additional risk factors of VTE were observed in 39.6% (21/53) probands who exhibited a significantly higher rate of recurrent VTE compared with those not, in which 7 probands were complicated by anti-phospholipid syndrome. Most probands and family members exhibited quantitative PS deficiency with impairment of both activated protein C and tissue factor pathway inhibitor cofactor activities. Note that 87.2% (34/39) PROS1 detectable mutation rate was obtained through comprehensive phenotypic and genetic analysis. A total of 36 PROS1 causative mutations including 16 novel mutations were identified in 48 probands, whereas no PROS1 mutations were detected in the other 5 probands. Three hotspot mutations (Glu67Ala, Arg561Trp and Tyr560*) were identified in the Chinese population for the first time. This article provides a framework for correlating the clinical pathogenesis of PS deficiency to genetic backgrounds in the Chinese population.
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PMID:Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China. 3066 59

The Marburg I polymorphism (G511E) in FSAP gene was listed as one of the risk factor for idiopathic DVT among the western population. The frequency of Marburg I polymorphism in India is presently not known. Fifty DVT cases and 50 healthy controls were tested for Marburg I polymorphism using ARMS-PCR technique. The thrombophilic risk factors (Protein C, Protein S, Antithrombin III, Factor V Leiden and antiphospholipid antibodies) were also determined. Marburg I polymorphism (heterozygous) was found in 2 patients (4%) but not in control subjects. These two cases did not have any other thrombophilia markers. Among the thrombophilic markers, heterozygous FVL mutation, PS, PC, AT deficiencies and antiphospholipid antibodies were seen in 10%, 10%, 6%, 6% and 8% of the patients respectively. The controls showed only the presence of antiphospholipid antibodies in 6% of subjects. Marburg I polymorphism among Indians DVT patients was determined for the first time. Its incidence was found in 4% of cases and not in controls. Although not statically significant this may be considered as one of the contributory risk factors for the development of DVT. A larger study is required for the validation of data.
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PMID:Marburg I Polymorphism (G511E) in Adults with Deep Vein Thrombosis. 3215 2


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