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Identification of APOH polymorphisms as common genetic risk factors for venous thrombosis in the Chinese population

L Tang1, W Zeng, X Lu

  • 1Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Hubei Clinical Research Center of Thrombosis and Hemostasis, Wuhan, China.

Journal of Thrombosis and Haemostasis : JTH
|August 2, 2014
PubMed

Insights

Genetic variations in the APOH gene are linked to increased venous thrombosis risk. Specific haplotypes (H2, H3) significantly elevate risk, with H3 homozygotes showing a seven-fold increase and reduced beta2-glycoprotein I levels.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Research

Background:

  • Venous thrombosis (VT) is a significant global health issue.
  • Identifying genetic risk factors for VT is crucial for early risk assessment.
  • Current research primarily focuses on coagulation factors, necessitating exploration of other hemostasis-related proteins.

Purpose of the Study:

  • To investigate the apolipoprotein H (APOH) gene as a candidate for genetic variations associated with thrombosis risk.
  • To identify specific polymorphisms and haplotypes within APOH that may influence VT susceptibility.

Main Methods:

  • Resequencing of the APOH gene followed by a case-control study design.
  • Analysis of genetic linkage disequilibrium to identify common haplotypes.
  • Functional assays to assess the impact of identified genetic variations on beta2-glycoprotein I function and thrombin generation.

Main Results:

  • Four APOH polymorphisms (c.-32C>A, c.422T>C, c.461G>A, c.1004G>C) were found in high linkage disequilibrium, forming three haplotypes (H1, H2, H3).
  • Carriers of H2 heterozygotes and H3 homozygotes exhibited approximately 1.5-fold and seven-fold increased VT risk, respectively.
  • H3 homozygotes displayed reduced beta2-glycoprotein I levels and enhanced thrombin generation, with mutant protein showing impaired anticoagulant properties.

Conclusions:

  • The APOH gene is identified as a novel candidate gene associated with thrombosis.
  • Further genetic investigation of APOH is warranted for patients with unexplained thrombophilia.
  • These findings contribute to understanding the genetic basis of thrombosis and may inform future risk stratification strategies.
Abstract

Keywords:
Beta2-Glycoprotein Igenetic polymorphismslinkage disequilibriumrisk factorsvenous thrombosis

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