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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.00844

Association of SERPINC1 gene polymorphism (rs2227589) with pulmonary embolism risk in a Chinese population

 Yongjian YUE1,  Qing Sun2, Lu Xiao1,  Shengguo Liu1,  Qijun Huang1, Minlian Wang1, Mei Huo1, Mo Yang3 and  Yingyun Fu1*
  • 1Shenzhen People’s Hospital, China
  • 2Shenzhen Zhongshan Urological Hospital, China
  • 3Seventh Affiliated Hospital, Sun Yat-sen University, China

Background and Aims: Genetic variants in the gene SERPINC1 have been shown to be associated with antithrombin deficiency, which subsequently contributes to the susceptibility to venous thrombosis. However, several other studies have shown conflicting results regarding the association of SERPINC1 gene polymorphisms (rs2227589) with the risk of thrombosis. Hence, in the present study, we conducted a case-control study to further evaluate the association between the variant rs2227589 with antithrombin deficiency in pulmonary embolism (PTE). A pooled systematic analysis also conducted to evaluate the risk of rs2227589 in venous thromboembolism (VTE) among multiple populations. Methods: This case-control study involved 101 patients and 199 healthy controls. The allele frequency of SERPINC1 variant rs2227589 was analyzed by Sequenom assay. Antithrombin anticoagulant activity was detected using an automatic coagulation analyzer. In addition, a pooled systematic analysis on 10 cohorts consisting of 5518 patients with VTE and 8935 controls was performed. Results: In total, 27 (26.7%) PTE subjects were diagnosed as having antithrombin deficiency. Our results showed that antithrombin plasma activity was slightly lower in T allele carriers than in C allele carriers. However, there was no significant correlation between rs2227589 genotype and antithrombin anticoagulant activity. The recessive model showed that rs2227589 was significantly associated (p=0.026) with an increased risk [OR: 2.31, 95% CI (1.09–4.89)] of Chinese PTE. The pooled systematic analysis of all case-control study and meta-analysis showed that rs2227589 polymorphism was associated with an increased risk of VTE in the additive model [OR: 1.09, 95% CIs (1.01-1.18), P=0.029] and dominant model[OR: 1.10, 95% CIs (1.01-1.20), P=0.034]. Conclusions: Our study demonstrated that variant rs2227589 is associated with an increased risk of PTE in a Chinese population, but no correlation with antithrombin anticoagulant activity. However, pooled systematic analysis of multiple populations showed a significant association between rs2227589 and risk of VTE in the additive and dominant genetic model.

Keywords: SerpinC1, rs2227589, Pulmonary Embolism, pooled systematic analysis,, antithrombin anticoagulant activity

Received: 29 Jan 2019; Accepted: 14 Aug 2019.

Copyright: © 2019 YUE, Sun, Xiao, Liu, Huang, Wang, Huo, Yang and Fu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Prof. Yingyun Fu, Shenzhen People’s Hospital, Shenzhen, China,