Haplotypes of the endothelial protein C receptor gene and Beh莽et's disease

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• 作者：Silvia Navarro^a ; Elena Bonet^a ; ^b ; Pilar Medina^a ; Laura Martos^a ; José ; M. Ricart^c ; Amparo Vayá ; ^b ; José ; Todolí ; ^d ; Jordi Fontcuberta^e ; Amparo Estellé ; s^a ; Francisco Españ ; a^a ; ^{espanya_fra@gva.es}
• 关键词：VTE ; venous thromboembolism ; APC ; activated protein ; EPCR ; endothelial protein C receptor ; sEPCR ; soluble EPCR ; MI ; myocardial infarction ; PROCR ; endothelial protein C receptor gene ; SD ; standard deviation ; AT ; antithrombin ; PCI ; protein C inhibitor ; vWF
• 刊名：Thrombosis Research
• 出版年：2012
• 期刊代码：247_00493848
• 类别：med
• 出版时间：April, 2012
• 卷：129
• 期：4
• 页码：459-464
• 文件大小：190 K

摘要

Introduction

Beh莽et's disease is a vasculitis of unknown cause in which thrombosis occurs in about 25%of patients. Two haplotypes of the endothelial protein C receptor gene, H1 and H3, are associated with the risk of thrombosis. Thus, the objective of this study was to evaluate the influence of these haplotypes on the thrombosis risk in Beh莽et's disease.

Material and Methods

We evaluated the H1 and H3 haplotypes in 87 patients with Beh莽et's disease, 19 with and 68 without a history of thrombosis, and in 260 healthy individuals. We also measured protein C, activated protein C, and soluble endothelial protein C receptor levels in all individuals.

Results

The presence of the H1 haplotype seemed to protect Beh莽et's patients against thrombosis (odds ratio 0.21; 95%CI 0.1-0.8; p = 0.023), whereas the frequency of the H3 haplotype was lower in patients than in control individuals (0.19; 0.1-0.5; p = 0.006). Furthermore, the H1 haplotype was associated with increased levels of activated protein C, whereas the H3 haplotype was associated with the highest soluble endothelial protein C levels. Moreover, activated protein C levels were lower in patients with than in patients without posterior uveitis (p < 0.001).

Conclusions

These findings indicate that the H1 haplotype protects Beh莽et's patients from thrombosis, likely via increased levels of activated protein C, whereas individuals carrying the H3 haplotype seem to be protected from the clinical manifestations associated with Beh莽et's disease, probably via increased soluble endothelial protein C levels.