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Platelet endothelial cell adhesion molecule1 gene 125C/G polymorphism is associated with deep vein thrombosis

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Deep vein thrombosis (DVT) is a common disorder that is associated with high morbidity and mortality. Genetic factors have been suggested to influence the predisposition towards thrombosis and the incidence of DVT. Platelet endothelial cell adhesion molecule1 (PECAM1) is a key adhesion molecule that is involved in platelet function and maintenance of endothelial cell junctions. To date, no studies have examined the association between polymorphisms in PECAM1 and DVT. The present study analyzed the single nucleotide polymorphisms (SNPs) of PECAM1, namely Leu125Val (C373G), Asn563Ser (T1688C) and Gly670Arg (C2008T), in Chinese patients with DVT and age and gendermatched controls, using polymerase chain reactionrestriction fragment length polymorphism analysis. Furthermore, plasma soluble PECAM1 (sPECAM1) levels were quantified by ELISA. The results of the present study demonstrated significantly higher genotype and allele frequencies of the Leu125Val polymorphism in PECAM1 in the DVT group as compared with those in the control group (P<0.05). The plasma levels of sPECAM1 in the DVT group (83.4±23.5 ng/ml) were also significantly higher as compared with those in the control group (60.4±19.4 ng/ml, P<0.01). In the patients with DVT, plasma levels of sPECAM1 were significantly higher in those with the Leu/Val and Val/Val genotypes as compared with those possessing the Leu/Leu genotype (P<0.05). The PECAM1 Leu125Val polymorphism was shown to be associated with an increased risk of DVT and PECAM1 protein expression levels in venous vessels. In patients with DVT, the PECAM1 Leu/Val and Val/Val genotypes were associated with delayed thrombus resolution, as determined by thrombus scoring, as compared with that in patients possessing the Leu/Val genotype. In conclusion, the present study indicated that PECAM1 Leu125Val polymorphism and sPECAM1 levels may be associated with DVT.
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Document Type: Research Article

Affiliations: 1: Department of Vascular Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China 2: Department of General Surgery, The Central Hospital of Tai'an, Tai'an, Shandong 271000, P.R. China

Publication date: August 1, 2015

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  • Molecular Medicine Reports is a monthly, peer-reviewed journal available in print and online, that includes studies devoted to molecular medicine, underscoring aspects including pharmacology, pathology, genetics, neurosciences, infectious diseases, molecular cardiology and molecular surgery. In vitro and in vivo studies of experimental model systems pertaining to the mechanisms of a variety of diseases offer researchers the necessary tools and knowledge with which to aid the diagnosis and treatment of human diseases.
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