Farmakogeni u populaciji Roma Hrvatske

undergraduate thesis

• Title (english): Pharmacogenes in the Roma population of Croatia
• Author: Sanja Špinderk
• Mentor: Petra Korać (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2023-09-25, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Geni ADME su skupina gena koji nose informaciju za proteine uključene u apsorpciju, distribuciju,
metabolizam i ekstrakciju lijekova, toksina i drugih kemijskih tvari iz okoliša. Kod nekih pacijenta
isti lijek djeluje brže, drugih djeluje sporije ili može uzrokovati više ili manje nuspojava, pa i smrt.
Zbog postojanja većeg broja varijanti farmakogena, varijante proteina mogu imati različitu
aktivnost i brzine metaboliziranja, dovodeći do individualnog specifičnog varijabilnog odgovora
... More organizma na određeni lijek. Primjena učinkovitog lijeka u odgovarajućoj dozi postaje izazov
farmakološke terapije. Specifična distribucija varijacija ADME gena među ljudima koristi se u
istraživanjima odnosa genetičke i geografske udaljenosti populacija, etničke pripadnosti i
evolucijske prošlosti populacije. Romi kao izolirana, transnacionalna populacija porijeklom iz
Indije, sa izraženim učinkom utemeljitelja, endogamijom i reproduktivnom izoliranosti model su
u istraživanju gena čija se varijabilnost mijenja između populacija, poput ADME gena. U Hrvatskoj
ova je populacija podijeljena na balkansku (Zagreb), međimursku i baranjsku subpopulaciju.
Istraživanjem pozicije hrvatskih Roma s obzirom na svjetsku varijaciju lokusa ADME gena,
učestalosti rjeđeg alela, odnosa genetičke varijacije i geografske udaljenosti, te intra- i
interpopulacijske analize polimorfizama CYP2B6, CYP2D6, CYP2C19 i SLC22 ADME gena i
njihovih fenotipa nastoji se doprinijeti odabiru prikladnog lijeka za učinkovitu terapiju pripadnika
ove populacije. Less

Abstract (english)

ADME genes are a group of genes that carry information for proteins involved in the absorption,
distribution, metabolism and extraction of drugs, toxins and other chemical substances from the
environment. For some patients the same medicine works faster for others it works more slowly or
it can cause more or less side effects, even death. Due to the existence of a large number of
pharmacogene variants, protein variants can have different activity and metabolizing rates leading
to an... More individual specific variable response of the organism to a certain drug.
Administration of an effective drug in an appropriate dose becomes a challenge of pharmacological
therapy. The specific distribution of ADME genes variations among people is used in research on
the relationship between genetic and geographical distance of populations, ethnicity and the
evolutionary past of the population. Roma as an isolated transnational population originating from
India with a pronounced founder effect, endogamy and reproductive isolation are a model in the
study of genes whose variability changes between populations such as the ADME genes. In Croatia,
this population is divided into the Balkan (Zagreb), Međimurje and Baranja subpopulations. By
researching the position of Croatian Roma with regard to the worldwide variation of the ADME
gene locus, the frequency of the rarer allele, the relationship between genetic variation and
geographic distance, and the intra- and interpopulation analysis of CYP2B6, CYP2D6, CYP2C19
and SLC22 ADME gene polymorphisms and their phenotypes an effort is made to contribute to
the selection of a suitable drug for effective therapy for members of this population. Less

• Keywords: geni ADME; izolacija; gen CYP2B6; gen CYP2D6; gen CYP2C19; gen SLC22A1; gen SLC22A
• Keywords (english): ADME genes; isolation; CYP2B6 gene; CYP2D6 gene; CYP2C19 gene; SLC22A1 gene; SLC22A gene
• Language: croatian
• URN:NBN: urn:nbn:hr:217:729252
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-10-02 12:48:38