2. Academic Validation
  3. Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis

Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis

  • Int J Lab Hematol. 2021 Apr;43(2):266-272. doi: 10.1111/ijlh.13345.
Minh Duc Do 1,  Dung Van Pham 2,  Long Phi Le 3,  Linh Hoang Gia Le 1,  Luan Bao Minh Tran 3 4,  Minh Duc Dang Huynh 5,  Quang Minh Do 2,  Hoang Anh Vu 1,  Nam Hoai Nguyen 4,  Thao Phuong Mai 5
Affiliations

Affiliations

  • 1 Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
  • 2 Thong Nhat General Hospital, Dong Nai, Vietnam.
  • 3 Thoracic and Vascular Department, University Medical Center, Ho Chi Minh City, Vietnam.
  • 4 Department of Cardiovascular and Thoracic Surgery, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
  • 5 Department of Physiology-Pathophysiology-Immunology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
PMID: 32964666 DOI: 10.1111/ijlh.13345
Abstract

Introduction: Genetic mutations of PROC and PROS1 are well-known risk factors for deep venous thrombosis (DVT) in the Asian population. However, the genetic profile of Vietnamese patients with DVT remains elusive. This study aimed to investigate the spectrum of genetic mutations of these two genes in Vietnamese patients diagnosed with idiopathic DVT.

Materials and methods: A total of 50 Vietnamese patients diagnosed with idiopathic DVT were recruited in this study. The entire coding regions of the protein C and protein S genes were amplified and directly sequenced to determine genetic alterations.

Results: Four and six genetic mutations were detected in protein C and protein S genes, respectively, in 24 Vietnamese DVT patients. PROC c.565C > T (p.R189W) was the most common mutation found in 13 out of 50 patients, while the mutations of PROS1 comprised three missense and three nonsense variants which diffuse along the gene.

Conclusions: This study shows that mutations of protein C and protein S genes are prevalent in Vietnamese patients diagnosed with idiopathic DVT, and PROC c.565C > T (p.R189W) was the most common genetic alteration.

Keywords

Vietnam; deep venous thrombosis; genetic mutation; protein C; protein S.

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