Abstract
Objective. Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers. Methods. Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations. Results. The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02–3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93–21.49). Conclusions. The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.
Highlights
Venous thromboembolism (VTE) is a multifaceted disorder with high levels of morbidity, mortality, and recurrence worldwide [1]
Our results showed that the genetic dose of the venous thrombosis associated allele vWA-18 was 22% in cases and 14% in controls (OR = 1.51, 95% CI = 1.04–2.20, P = 0.0232), whereas the genetic doses of thyroid peroxidase (TPOX)-9 and TPOX-12 thrombosis associated alleles were ≈43% in cases and ≈6% in controls (OR = 17.06, 95% CI = 11.06–26.36, P ≤ 0.0001), and ≈31% in cases and 12% in controls (OR = 2.3, 95% CI = 1.6–3.3, P ≤ 0.0001), respectively
Our results indicated that the combination of allele 18 with allele 9 (TPOX) as well as 18 with 12 (TPOX) yielded a significant difference (OR = 10.21, 95% CI = 4.93–21.49, P ≤ 0.0001; odds ratio (OR) = 1.94, 95% CI = 1.02–3.64, P < 0.05), suggesting that this combination could be associated with an increase in the venous thrombosis risk
Summary
Venous thromboembolism (VTE) is a multifaceted disorder with high levels of morbidity, mortality, and recurrence worldwide [1]. It is defined by deep vein thrombosis, pulmonary embolism, or both [2]. VTE exhibits a multifactorial aetiology and several risk factors such as age, trauma, hormonal misbalance, immobility, hypercoagulable state, thrombophilic defects, and hypertension are involved in its development [3]. Microsatellites, named short tandem repeats (STRs), are the most important source of human genetic variation [5]. STRs have been linked to disease phenotypes, BioMed Research International principally, in neuromuscular and neurodegenerative disorders [7]. STRs have been related to complex diseases such as cancer, diabetes, and cardiovascular diseases (CVD), suggesting that STRs have more phenotypic effect than many single nucleotide polymorphisms (SNPs) [5, 6, 8]
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