prikaz prve stranice dokumenta Prevalence of rare F5 variants in general population from Bosnia and Herzegovina
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Scientific paper - Original scientific paper
Prevalence of rare F5 variants in general population from Bosnia and Herzegovina
Molecular Biology Reports, 48 (2021), 6; 5181-5186. https://doi.org/10.1007/s11033-021-06519-2
Ašić, Adna; Salazar, Ramona; Storm, Niels; Doğan, Serkan; Höppner, Wolfgang; Marjanović, Damir; Primorac, Dragan

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

Cite this document

Ašić, A., Salazar, R., Storm, N., Doğan, S., Höppner, W., Marjanović, D. & Primorac, D. (2021). Prevalence of rare F5 variants in general population from Bosnia and Herzegovina. Molecular Biology Reports, 48. (6), 5181-5186. doi: 10.1007/s11033-021-06519-2

Ašić, Adna, et al. "Prevalence of rare F5 variants in general population from Bosnia and Herzegovina." Molecular Biology Reports, vol. 48, no. 6, 2021, pp. 5181-5186. https://doi.org/10.1007/s11033-021-06519-2

Ašić, Adna, Ramona Salazar, Niels Storm, Serkan Doğan, Wolfgang Höppner, Damir Marjanović and Dragan Primorac. "Prevalence of rare F5 variants in general population from Bosnia and Herzegovina." Molecular Biology Reports 48, no. 6 (2021): 5181-5186. https://doi.org/10.1007/s11033-021-06519-2

Ašić, A., et al. (2021) 'Prevalence of rare F5 variants in general population from Bosnia and Herzegovina', Molecular Biology Reports, 48(6), pp. 5181-5186. doi: 10.1007/s11033-021-06519-2

Ašić A, Salazar R, Storm N, Doğan S, Höppner W, Marjanović D, and sur.. Prevalence of rare F5 variants in general population from Bosnia and Herzegovina. Molecular Biology Reports [Internet]. 2021 July 02 [cited 2024 November 30];48(6):5181-5186. doi: 10.1007/s11033-021-06519-2

A. Ašić, et al., "Prevalence of rare F5 variants in general population from Bosnia and Herzegovina", Molecular Biology Reports, vol. 48, no. 6, pp. 5181-5186, July 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:960349. [Accessed: 30 November 2024]

Metadata
Title (english)Prevalence of rare F5 variants in general population from Bosnia and Herzegovina
AuthorAdna Ašić
AuthorRamona Salazar
AuthorNiels Storm
AuthorSerkan Doğan
AuthorWolfgang Höppner
AuthorDamir Marjanović
AuthorDragan Primorac
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (english)
Human gene F5, encoding coagulation factor V, was previously reported to be highly polymorphic. Apart from FV Leiden, several other rare variants have been detected in clinical practice and associated with thrombotic events, especially in cases when patient's phenotype and FV Leiden genotype were not in agreement. In this study, the prevalence of 17 rare F5 variants has been studied on a sample of 130 healthy adult individuals from the general Bosnian-Herzegovinian population. DNA was isolated from buccal swab samples, while genotyping was performed using MALDI-TOF MS method. The results have shown that Asp2194Gly and Met2120Thr are polymorphic in the study population with minor allele frequencies of 0.077 and 0.073, respectively. Additionally, these two variants were mutually exclusive with FV Leiden and none of them was positively associated with participants' family history of cardiovascular or cerebrovascular diseases. While the obtained results are in agreement with previously reported data for the general Caucasian populations, it is worth noting that only two rare F5 variants were detected in the study population, albeit at considerable frequencies. Still, scientific information on rare F5 variants is rather scarce and further studies aiming to assess functional importance of these variants, as well as their role as prothrombotic factors are necessary.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleMolecular Biology Reports
Numberingvol. 48, no. 6, pp. 5181-5186
p-ISSN0301-4851
e-ISSN1573-4978
DOIhttps://doi.org/10.1007/s11033-021-06519-2
URN:NBNurn:nbn:hr:184:960349
Publication2021-07-02
Document URLhttps://link.springer.com/10.1007/s11033-021-06519-2
Type of resourceText
Access conditionsRestricted access
Terms of useLicence In copyright icon
Created on2022-04-07 13:46:11