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Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults: A

Eric Manderstedt1, Christer Halldén1, Christina Lind-Halldén1

  • 1Department of Environmental Science and Bioscience, Kristianstad University, Kristianstad, Sweden.

Thrombosis and Haemostasis
|January 12, 2022
PubMed

Insights

Homozygosity for the protein C receptor (PROCR) Ser219Gly variant increases venous thromboembolism (VTE) risk. A rare Arg113Cys PROCR variant also showed an association with VTE, while other variants did not impact risk.

Area of Science:

  • Genetics and Thrombosis
  • Molecular Biology
  • Epidemiology

Background:

  • The protein C (PC) system is crucial for hemostatic balance.
  • A specific missense variant (Ser219Gly) in the PC receptor (PROCR) gene has been linked to venous thromboembolism (VTE).

Purpose of the Study:

  • To investigate the thrombotic risk associated with rare and common PROCR gene variants in a large cohort of middle-aged and older adults.
  • To identify specific PROCR variants contributing to VTE risk.

Main Methods:

  • Exonic sequencing of the PROCR gene in 28,794 individuals from the Malmö Diet and Cancer study.
  • Analysis included the Ser219Gly variant and other qualifying variants (loss-of-function or nonbenign missense variants with minor allele frequencies <0.1%).
  • VTE incidence was tracked until 2018, with statistical analysis using Kaplan-Meier and Cox regression models.

Main Results:

  • 36 PROCR variants were identified, including 22 missense and 3 loss-of-function variants.
  • Homozygosity for the Ser219Gly variant significantly increased VTE risk (HR=1.5), while heterozygosity had no effect.
  • The Arg113Cys missense variant (rs146420040) was associated with increased VTE risk (HR=1.3), but other rare variants did not contribute to risk.

Conclusions:

  • Homozygosity for the Ser219Gly PROCR variant is associated with an elevated risk of VTE.
  • The Arg113Cys PROCR variant is also linked to VTE, confirming its functional significance.
  • Most other identified PROCR variants do not appear to influence VTE risk in this population.
Abstract

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