Genetic variants associated with venous thromboembolism in a pedigree of young patients cohort
Main Article Content
Abstract
The study aimed to identify and evaluate the impact of genetic variants associated with the risk of venous thromboembolism (VTE) in a young patients family in Vietnam. The study was conducted on 13 members from three generations of the single family. We used next-generation sequencing (NGS) to analyze 34 genes associated with VTE. The results showed that 6 out of the 21 genes in the study group had variants linked to thrombosis risk, including FGB, THBD, MTR, MTRR, and MTHFR. Among them, the rs6025 variant of the F5 gene was found in all surveyed members in a homozygous form. These findings supported the hypothesis regarding the role of genetic factors in the risk of developing VTE with no obvious precipitating factors in young individuals and highlighted the need for genetic testing in the management and treatment of this condition.
Article Details
Keywords
Genetic polymorphism, thrombosis, VTE, genetics, family cohort, familial thrombosis
References
2. Klarin D, Busenkell E, Judy R, et al. Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease. Nat Genet. 2019; 51(11):1574-1579.
3. Lee S, Lee CH, Seo MS, Yoo JI. Integrative analyses of genes about venous thromboembolism: An umbrella review of systematic reviews and meta-analyses. Medicine (Baltimore). 2022; 101(43): e31162.
4. Lutsey PL, Zakai NA. Epidemiology and prevention of venous thromboembolism. Nat Rev Cardiol. 2023; 20(4): 248-262.
5. Klarin D, Emdin CA, Natarajan P, Conrad MF, Kathiresan S. Genetic analysis of venous thromboembolism in UK Biobank identifies the ZFPM2 locus and implicates obesity as a causal risk factor. Circ Cardiovasc Genet. 2017; 10(2).
6. Lindström S, et al. Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. Blood. 2019; 134(19): 1645-1657.
7. Trégouët DA, Morange PE. What is currently known about the genetics of venous thromboembolism at the dawn of next-generation sequencing technologies Br J Haematol. 2018; 180(3): 335-345.