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Updated: May 4, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

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Prevalence of the Factor V E666D Mutation and Its Correlation With Activated Protein C Resistance in the Chinese

Chen Xin-Guang1, Zhao Yong-Qiang1, Wang Shu-Jie1

  • 1Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|December 17, 2013
PubMed

Insights

Activated protein C resistance (APCR) is a risk factor for blood clots, but the novel Factor V E666D mutation was not found in Chinese patients. This study did not confirm FV E666D as a cause of APCR in this population.

Area of Science:

  • Genetics
  • Hematology
  • Thrombosis research

Background:

  • Activated protein C resistance (APCR) is an inherited risk factor for venous thromboembolism (VTE), particularly in Caucasians.
  • In Chinese populations, APCR is not typically linked to the Factor V (FV) Leiden mutation.
  • A novel FV E666D mutation was previously identified in a Chinese family with hereditary APCR.

Purpose of the Study:

  • To evaluate the prevalence of the FV E666D mutation in the Chinese population.
  • To determine the correlation between FV E666D mutation and APCR in Chinese individuals.

Main Methods:

  • Recruited 163 consecutive patients undergoing thrombophilia testing between June 2009 and January 2011.
  • Retrospectively reviewed clinical data and performed thrombophilia tests including APCR, anticoagulant proteins, and antiphospholipid antibodies.
  • Detected the Factor V E666D mutation in recruited patients.

Main Results:

  • Activated protein C resistance (APCR) was identified in 3.7% of patients (2.9% without thrombosis, 5.1% with thrombosis history).
  • The Factor V E666D mutation was not detected in any of the 163 patients, including those who were APCR positive.
  • The observed prevalence of APCR was lower than previously reported in other Chinese studies.

Conclusions:

  • The study did not find the FV E666D mutation in the studied Chinese population.
  • The FV E666D mutation could not be confirmed as a cause of APCR in Chinese individuals.
  • Further research is needed to understand the genetic factors contributing to APCR in the Chinese population.
Abstract

Keywords:
activated protein C resistanceantiphospholipid antibodieslupus anticoagulantthrombosis

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