Title | HOST GENETICS IN TUBERCULOSIS SUSCEPTIBILITY |
Author | Alja Štefelin |
Mentor(s) | Ozren Polašek (thesis advisor)
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Abstract | Objectives: The aim of this study was to investigate the genetic background underlying
increased risk of developing tuberculosis.
Methods: A subset of the 10,001 Dalmatians study data were used for purpose of this study. We performed a genome-wide association analysis of the subjects who had a medical record of hospital admission due to tuberculosis. All other subjects who were not admitted to hospital for tuberculosis treatment were considered as controls.
Results: A single significant result (at the formal significance level cut-off value of 3*E-08), belonging to the CECR6 gene was recorded. Additionally, DSCAM, FOXK2 and KLF8 yielded nearly significant result, supporting the previous idea of complex genetic background risk definition.
Discussion: This is the first report of the CECR6 gene in tuberculosis pathogenesis, which is in line with the biological functions previously described for this gene. The additional three genes also seem to have roles that can easily be associated with tuberculosis. The genetic architecture underlying tuberculosis seems to be very complex, and requires larger-scale analyses in order to be able to develop a diagnostic tools and provide individualized prevention measures in the future, by focusing on individuals that have the highest underlying risk for contracting and developing clinically relevant disease. |
Parallel title (Croatian) | GENETIKA DOMAĆINA U OSJETLJIVOSTI NA TUBERKULOZU |
Committee Members | Jasna Marinović Ljubković (committee chairperson) Iris Jerončić Tomić (committee member) Vesna Boraska Perica (committee member)
|
Granter | University of Split School of Medicine |
Lower level organizational units | Public health |
Place | Split |
State | Croatia |
Scientific field, discipline, subdiscipline | BIOMEDICINE AND HEALTHCARE Public Health and Health Care Public Health
|
Study programme type | university |
Study level | integrated undergraduate and graduate |
Study programme | Medical Studies in English |
Academic title abbreviation | dr. med. |
Genre | master's thesis |
Language | English |
Defense date | 2017-07-21 |
Parallel abstract (Croatian) | Cilj: Istražiti genetsku podlogu domaćina kao čimbenika rizika za nastanak tuberkuloze.
Metode: Koristili smo podatke iz projekta 10.001 Dalmatinac, i to populacije otoka Visa, u kojoj smo zabilježili najveći broj slučajeva tuberkuloze. Ispitanici bez podatka o bolničkom liječenju smatrani su kontrolama.
Rezultati: Rezultati su ukazali na ulogu CECR6 gena u nastanku tuberkuloze, što je novi genetski mehanizam koji predviđa individualni rizik nastanka tuberkuloze. Još tri gena su bili sugestivni, potvrđujući složenu situaciju i otežano predviđanje ishoda bolesti.
Zaključak: Iako smo opisali novi genetski mehanizam, rezultati ukazuju na veliki opseg varijabilnosti u određivanju osobnog rizika, koji je potencijalno dodatno kompliciran mogućim lokalnim rezultatima ko-evolucije patogena i domaćina. Okrupnjavanje istraživačkih pokušaja i stvaranje konzorcija će omogućiti detaljniji uvid i osigurati uvjete za razvoj individualiziranog pristupa predviđanju pojave bolesti. |
Parallel keywords (Croatian) | Tuberculosis Genome-Wide Association Study Tuberkuloza Genomska analiza povezanosti |
Resource type | text |
Access condition | Open access |
Terms of use |  |
URN:NBN | https://urn.nsk.hr/urn:nbn:hr:171:677396 |
Committer | Linda Ivas |