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Common genetic risk factors for venous thrombosis in the Chinese population

Liang Tang1, Hua-Fang Wang, Xuan Lu

  • 1Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

American Journal of Human Genetics
|January 22, 2013
PubMed

Insights

A common genetic variant in the THBD gene significantly increases the risk of venous thrombosis in the Chinese population. This finding highlights the importance of genetic factors in thrombosis development.

Area of Science:

  • Genetics
  • Hematology
  • Medical Research

Background:

  • Venous thrombosis is a significant health issue influenced by genetic and environmental factors.
  • The genetic basis of venous thrombosis in the Chinese population is not well understood.
  • Previous research has not fully elucidated the genetic predispositions for venous thrombosis.

Purpose of the Study:

  • To investigate the genetic factors contributing to venous thrombosis in the Chinese population.
  • To identify specific genetic variants associated with an increased risk of venous thrombosis.
  • To analyze the role of the THBD gene in the pathogenesis of venous thrombosis.

Main Methods:

  • A large-scale case-control study involving 1,304 patients with venous thrombosis and 1,334 healthy controls.
  • Resequencing of the THBD gene in a subset of participants.
  • Functional assays to assess the impact of genetic variants on gene expression.
  • Family-based analysis to evaluate the heritability of the identified risk variant.

Main Results:

  • A common variant, THBD c.-151G>T (rs16984852), in the 5' UTR of the THBD gene was identified.
  • This variant significantly reduces THBD gene expression and is associated with a predisposition to venous thrombosis.
  • Heterozygotes for the variant showed a 2.80-fold increased risk of venous thrombosis.
  • Family analysis revealed a 3.42-fold increased risk in first-degree relatives carrying the variant.

Conclusions:

  • The THBD c.-151G>T variant is a significant genetic risk factor for venous thrombosis in the Chinese population.
  • Genetic factors, particularly variations in the THBD gene, play a crucial role in the development of venous thrombosis.
  • Further research on hemostasis genes, including THBD, in diverse populations is warranted.

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