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Prothrombotic SERPINC1 gene polymorphism may affect heparin sensitivity among different ethnicities of Chinese

Jiang Wang1, Hai-Ping Ma1, Ai Lai Ti Ta Lai Ti1

  • 1Department of Anesthesiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|November 2, 2014
PubMed

Insights

Single-nucleotide polymorphisms (SNPs) in the antithrombin (SERPINC1) gene were linked to varying heparin sensitivity in heart surgery patients. Han Chinese patients showed higher SNP frequencies, potentially explaining their altered response to heparin.

Area of Science:

  • Pharmacogenomics
  • Cardiovascular Surgery
  • Genetic Epidemiology

Background:

  • Heparin is crucial for anticoagulation during heart surgery.
  • Individual responses to heparin can vary significantly, impacting patient outcomes.
  • Genetic factors, such as variations in the antithrombin gene (SERPINC1), may influence heparin sensitivity.

Purpose of the Study:

  • To investigate the correlation between single-nucleotide polymorphisms (SNPs) in the SERPINC1 gene and perioperative heparin sensitivity in patients undergoing heart surgery.
  • To compare SERPINC1 genotype and allele frequencies, coagulation parameters, and clinical findings across different ethnic groups (Han, Uighur, Kazakh).

Main Methods:

  • Genotyping of SERPINC1 SNPs (rs5877 and rs5878) in patients undergoing heart surgery.
  • Analysis of coagulation parameters 24 hours pre- and post-surgery.
  • Comparison of genetic and clinical data among Han, Uighur, and Kazakh ethnic groups.

Main Results:

  • Two SERPINC1 mutations (g.981A>G [rs5877] and g.1011A>G [rs5878]) were identified in exon 5.
  • Han patients exhibited longer coagulation times and required higher doses of heparin and protamine.
  • Significantly higher minor allele frequencies for rs5877 and rs5878 were observed in Han patients compared to other ethnic groups (P = .004 and P = .006, respectively).

Conclusions:

  • Increased frequency of SERPINC1 SNPs in Han patients undergoing heart surgery may contribute to ethnic differences in perioperative heparin sensitivity.
  • Genetic variations in SERPINC1 could be a factor in personalized anticoagulation strategies for cardiac surgery patients.
  • Further research is warranted to elucidate the precise mechanisms linking SERPINC1 SNPs to heparin response.

Keywords:
antithrombincardiopulmonary bypasspartial thromboplastin timeprothrombin timesingle-nucleotide polymorphism

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