ORIGINAL ARTICLESProtein C polymorphism and susceptibility to PTE in ChinaZhang, Yi-Jiea; Miao, Ya-Fanga; Cheng, Ke-Binb; Yue, Junc; Tan, Xiao-Yuea; Liu, Jin-MingbAuthor Information aDepartment of Pulmonary Function Test bDepartment of Respiratory Medicine cKey Laboratory of Mycobacteria Tuberculosis, tongji University School of Medicine, Shanghai Pulmonary Hospital Affiliated to Tongji University, Shanghai 200433, China Correspondence to Jin-Ming Liu, PhD, Department of Respiratory Medicine, Shanghai Pulmonary Hospital Affiliated to Tongji University, Tongji University School of Medicine, 507 Zheng Min Road, Shanghai 200433, China Tel: +86 21 65115006 extent 3005; fax: +86 21 55663830; e-mail: [email protected] Received 7 September, 2011 Revised 2 May, 2012 Accepted 8 May, 2012 Blood Coagulation & Fibrinolysis: December 2012 - Volume 23 - Issue 8 - p 693-699 doi: 10.1097/MBC.0b013e328355a7f2 Buy Metrics Abstract Pulmonary thromboembolism (PTE) is a common clinical problem that is associated with substantial morbidity and mortality. We investigated the role of protein C polymorphism in patients with PTE in order to find out the correlation between its polymorphism and the susceptibility of the Chinese population to develop PTE. We used a case–control study design. Sixty-three consecutive patients with PTE were enrolled as the investigated group and 86 healthy people as the control group. Two novel polymorphisms, C/T at the position of 2405 and A/G at the position of 2418in the protein C gene promoter region were detected through PCR-restriction fragment length polymorphism analysis. The results suggested that the genotype frequencies of the two single-nucleotide polymorphisms (SNPs) when combined together were not significantly different between the case and control group (P > 0.05). However, the allele frequency of the C2405T SNP was significantly different between the case and control group. The frequency of T allele in the PTE group was higher when compared to the control, whereas the frequency of C allele was lower (P < 0.05). These results suggested that there were six different kinds of genotype distribution (TA–TA, TA–CA, TA–CG, CG–CG, CA–CG, CA–CA) and three different kinds of haplotype (TA, CG, CA). Our result showed that the frequency of the TA haplotype was significantly higher in the patients suffering from PTE (P < 0.05). These results suggest that the two polymorphisms present in the control region of the protein C gene are associated with an increased susceptibility to PTE in the Chinese population. The 2405T allele may be a possible risk factor for the development of PTE, whereas the C allele may probably be a protective factor of PTE Moreover, the TA haplotype may also be associated with an increased risk for developing PTE. © 2012 Lippincott Williams & Wilkins, Inc.