Frequency of genetic mutations associated with thromboembolism in the Western Black Sea region

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dc.authorid0000-0002-2408-5294en_US
dc.contributor.authorTuğ, Esra
dc.contributor.authorAydın, Hatip
dc.contributor.authorKaplan, Ebru
dc.contributor.authorDoğruer, Dilek
dc.date.accessioned2021-06-23T19:28:37Z
dc.date.available2021-06-23T19:28:37Z
dc.date.issued2011
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractObjective We aimed to determine the prevalences of important genetic causes of thromboembolism for the first time in the western Black Sea Region of Turkey. Patients and Methods One hundred and eighty-eight patients diagnosed early with thrombophilia were included in the study. The samples were genotyped using real-time LightCycler. Results Of the 188 patients, 179 (95.2%) had one or more mutations. The frequencies of Factor V (FV) Leiden (FVL, G1691A), FV H1299R (A1299G), Factor II (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C were 11.7%, 5.6%, 2.5%, 30.4% and 39.1%, respectively. FV1691A was commonly represented in deep venous thrombosis (34.2%). The highest frequencies of FV1299G and FII20210A were in the vascular headache and deep venous thrombosis groups (10% and 10.5%, respectively). MTHFR677T was common in the pulmonary embolism (37%). MTHFR1298C frequency was 55.9% in recurrent abortus. Within-group comparisons yielded significant differences in the distributions of the FVL and FV H1299R mutations (p=0.002 and p=0.039, respectively). Conclusion There were significant positive associations between venous thromboembolism and FVL and FV H1299R. FVL mutation in DVT may be an important predisposing factor that needs to be tested routinely in this population.en_US
dc.identifier.doi10.2169/internalmedicine.50.4144
dc.identifier.endpage21en_US
dc.identifier.issn0918-2918
dc.identifier.issue1en_US
dc.identifier.pmid21212568en_US
dc.identifier.scopus2-s2.0-78651243334en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage17en_US
dc.identifier.urihttps://doi.org/10.2169/internalmedicine.50.4144
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7037
dc.identifier.volume50en_US
dc.identifier.wosWOS:000289997200003en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorTuğ, Esra
dc.institutionauthorAydın, Hatip
dc.institutionauthorKaplan, Ebru
dc.institutionauthorDoğruer, Dilek
dc.language.isoenen_US
dc.publisherJapan Soc Internal Medicineen_US
dc.relation.ispartofInternal Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectthromboembolism-factoren_US
dc.subjectV Gene-prothrombinen_US
dc.subjectGene-methylene Tetrahydrofolate Reductaseen_US
dc.subjectGene-genetic Mutationen_US
dc.titleFrequency of genetic mutations associated with thromboembolism in the Western Black Sea regionen_US
dc.typeArticleen_US

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