Abstract
To evaluate SNPs (single nucleotide polymorphism) in PROC (protein C gene) associated with pulmonary embolism (PE) susceptibility in North Chinese Han population. A case-control study design was used, and patients with PE and healthy participants were enrolled from the Emerging Department of the several hospitals in Weifang, Shandong, China. SNPs in PROC were genotyped using Mass ARRAY system. The allele frequency of rs199469469 was significantly different between PE patients and the control [OR (95 % CI) = 5.00 (1.66–15.12), P = 0.004], and the difference remained significantly after controlling for age and gender [OR (95 % CI) = 5.34 (1.47–19.39), P = 0.011). The G(del)G in the haplotype includes rs1799809|rs199469469|rs2069928 was of a significantly difference (P = 0.016) among PE patients and the controls, and remained significant (P = 0.015) after adjustment for age and sex. Our study reports that PROC SNPs (rs199469469) might be associated with PE susceptibility, with the G allele of rs199469469 serving as the protective factors for incidence of PE. These findings may contribute to the understanding and primary prevention of PE.
Highlights
The major thrombotic medical disorders include venous thromboembolism (VTE), a multifactorial disorder consisting of deep venous thrombosis (DVT) and pulmonary embolism (PE)
We investigated the association between protein C (PROC) variants and incidence of PE in a case-control study of North China Han population
Six polymorphisms in the PROC gene were genotyped through Mass ARRAY system, with success rate of 99.7, 96.8, 96.6, 92.1, 97.6 and 97.6% for rs1799809, rs199469469, rs2069928, rs7580688, rs2240817 and rs3771293, respectively (Fig. 1)
Summary
The major thrombotic medical disorders include venous thromboembolism (VTE), a multifactorial disorder consisting of deep venous thrombosis (DVT) and pulmonary embolism (PE). PE contributes to 5–10 % of deaths in hospitalized patients and VTE is a leading preventable cause of in-hospitalized death (Alikhan et al 2004; Cohen et al 2008). In USA, the incidence of all DVT/PE events is 300,000–600,000 cases per year (approximately 1–2 per 1000 persons per year) and the mortality rates of all DVT/PE events is 60,000–100,000 cases per year (Beckman et al 2010). It is PE is caused by both genetic and environmental factors, among which genetic factors account for up to 60 % of risk (Souto et al 2000). TM-bound thrombin cleaves the 158–169 activation peptide of PC and generates activated PC (APC) (Wildhagen et al 2011)
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