Genetic association of PROC variants with pulmonary embolism in Northern Chinese Han population

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.