Pathogenic Ala303Val Mutation in the PROS1 Gene is Associated with the Pathogenesis of Deep Vein Thrombosis

dc.contributor.author Bali, Dilara Fatma Akin
dc.contributor.author Eroglu, Tamer
dc.contributor.author Ozkan, Didem Torun
dc.date.accessioned 2024-05-25T11:26:34Z
dc.date.available 2024-05-25T11:26:34Z
dc.date.issued 2022
dc.department Okan University en_US
dc.department-temp [Bali, Dilara Fatma Akin] Nigde Omer Halisdemir Univ, Fac Med, Dept Med Biol, Nigde, Turkey; [Eroglu, Tamer] Cukurova State Hosp, Dept Cardiovasc Surg, Adana, Turkey; [Ozkan, Didem Torun] Istanbul Okan Univ, Vocat Sch Hlth Serv, Med Lab Programme, Istanbul, Turkey en_US
dc.description.abstract Objective: The aim of this study was to predict the functional impact of pathogenic mutations and the mRNA expression profiles of the platelet endothelial aggregation receptor 1 (PEAR1), protein S (alpha) (PROS1), and adrenoceptor alpha 2A (ADRA2A) genes in deep vein thrombosis (DVT), as well as to examine the effects of these genes on the pathogenesis of DVT. Materials and Methods: Patients diagnosed with DVT were selected for the study and healthy individuals were used as controls. Mutations in the PEAR1, PROS1, and ADRA2A genes were determined by DNA sequencing analysis and gene expressions were determined using quantitative real-time polymerase chain reaction testing. Polymorphism Phenotyping v2 (Polyphen-2: http://genetics.bwh.harvard.edu/pph2/), SNAP2 (https://rostlab.org/services/snap2web/) and MutationTaster (https://www.mutationtaster.org/) software were used to define the pathogenic effects of mutations detected by sequencing the selected genes in hotspot regions. Mutation and gene expression analyses were noted in the results and clinical data. Results: A total of 27 patients with DVT and 10 healthy individuals were included in the study. Twenty-one mutations were detected in the 27 patients, most often in the PROS1 gene. A p.Ala303Val mutation is located on the human sex hormone-binding globulin (SHBG) domain of mutation PROS1 and is pathogenic. A p.A303V mutation is associated with premature termination in codon 303 of the SHBG domain. Examination of the effect on the mRNA expression level of wild-type versus mutant genotypes revealed that the mutant PROS1 p.A303V expression was significantly lower (p=0.041). Conclusion: A p.A303V mutation in PROS1 might be an independent risk factor for DVT, which could provide helpful insight into the pathogenesis of DVT. en_US
dc.description.sponsorship Scientific Research Projects of Nigde Omer Halisdemir University (BAP) [SAT 2020/2-BAGEP] en_US
dc.description.sponsorship This work was supported by grants from the Scientific Research Projects of Nigde Omer Halisdemir University (BAP; Project no SAT 2020/2-BAGEP). en_US
dc.identifier.citationcount 1
dc.identifier.doi 10.14744/etd.2021.42223
dc.identifier.endpage 193 en_US
dc.identifier.issn 2149-2247
dc.identifier.issn 2149-2549
dc.identifier.issue 2 en_US
dc.identifier.startpage 183 en_US
dc.identifier.trdizinid 530731
dc.identifier.uri https://doi.org/10.14744/etd.2021.42223
dc.identifier.uri https://hdl.handle.net/20.500.14517/990
dc.identifier.volume 44 en_US
dc.identifier.wos WOS:000774517900012
dc.institutionauthor Özkan, Didem
dc.language.iso en
dc.publisher Erciyes Univ Sch Medicine en_US
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı en_US
dc.rights info:eu-repo/semantics/openAccess en_US
dc.subject ADRA2A en_US
dc.subject deep vein thrombosis en_US
dc.subject gene expression en_US
dc.subject mutation en_US
dc.subject PEAR1 en_US
dc.subject platelets en_US
dc.subject polymorphism en_US
dc.subject PROS1 en_US
dc.title Pathogenic Ala303Val Mutation in the PROS1 Gene is Associated with the Pathogenesis of Deep Vein Thrombosis en_US
dc.type Article en_US
dc.wos.citedbyCount 1

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