Abstract Number: PB2346
Meeting: ISTH 2020 Congress
Background: Apo(a) is the main constituent of lipoprotein(a) (Lp(a)) and its homology with plasminogen Kringles IV and V is thought to underlie the artherogenic and thrombogenic characteristics of the protein. Polymorphisms in Kringle IV-2 repeat are highly heritable traits, directly associated with genetic variants, such rs3798220 and rs10455872, which influences the levels of the protein. Despite of substantial evidence of impact of Lp(a) in cardiovascular disease and its association with ﬁbrinolysis, the role in deep venous thrombosis (DVT) is still inconsistent.
Aims: Assess the relationship between Apo(a) variants rs3798220 and rs10455872 and DVT.
Methods: We genotyped 329 DVT outpatients and 121 healthy subjects from Hematology and Hemotherapy Center of Campinas, Brazil, using TaqMan Allelic Discrimination Assay (Applied Biosystems). We also assessed plasma Lp(a) concentration of 154 of these subjects, using Tina-quant Lipoprotein(a) Gen.2 (Roche). Chi-square test was performed for comparative analysis of general characteristics.
Results: The total allelic frequencies (rs10455872: T=97% and C=3%; rs3798220: A=94% and G=6%) followed the observed in Global population studies (i.e.TopMed). Of DVT patients, 7,6% were caries of the rs10455872 variant and 7,7% of the rs10455872 variant (respectively, 25 and 33 subjects), while the corresponding frequencies were 2,5% and 3,4% in controls (respectively, 3 and 15 subjects). There were no significant differences of the genotypic proportions between groups. The profile of DVT patients and the correspondent genotypes are presented in Table 1. The rs10455872 variant was significant associated with the Lp(a) levels of the subjects and no association was observed with rs3798220 variation (Figure 1).
Conclusions: The present study showed no association of the variants to the occurrence of an DVT, but differences between subgroups might be concealed by the sample size. The fibrinolitic system will still be evaluated in samples of the 73 variant carriers, as well as non-carriers with high Lp(a) levels through Simultaneous Thrombin and Plasmin generation tests.
To cite this abstract in AMA style:Macedo Toni I, Carmen Goncalves Lopes Fernandes M, Lamônica A, de Lima Montalvão SA, Annichino Bizzacchi JM. Apo(a) Polymorphisms rs3798220 and rs10455872 in a Brazilian Population of Deep Venous Thrombosis Pacients [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/apoa-polymorphisms-rs3798220-and-rs10455872-in-a-brazilian-population-of-deep-venous-thrombosis-pacients/. Accessed October 1, 2023.
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