Polimorfizmi gena CYP1A2 u populacijama Roma Hrvatske

master's thesis

• Title (english): Polymorphisms of CYP1A2 gene in Croatian Roma population
• Author: Sunčica Slemenšek
• Mentor: Marijana Peričić Salihović (mentor)
• Committee member: Marijana Peričić Salihović (predsjednik povjerenstva)
• Committee member: Ines Radanović (član povjerenstva)
• Committee member: Draginja Mrvoš-Sermek (član povjerenstva)
• Committee member: Željka Soldin (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2022-07-12, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Gen CYP1A2 kodira enzim koji sudjeluje u metabolizmu lijekova i odgovoran je za 95 %
primarnog metabolizma kofeina. Varijacije gena CYP1A2 posebno su slabo istraživane u
manjinskim i/ili izoliranim populacijama kao što su Romi, transnacionalna populacija indijskog
podrijetla koja živi kao manjina u gotovo svim zemljama Europe. Glavni cilj istraživanja bio je
utvrditi na koji način demografska povijest i evolucijski mehanizmi utječu na distribuciju alela
i haplotipova tri farmakogenetički relevantna polimorfizama gena CYP1A2 u tri skupine Roma
Hrvatske (Baranja, Međimurje i Balkan). Uzorci su genotipizirani metodom KASP (eng.
Kompetitive Allele Specific PCR). Genotipizacijski podaci uspoređeni su učestalostima
istraživanih SNP-ova u europskim i azijskim populacijama. U romskih skupinama Hrvatske od
3 analizirana SNP-a, rs2069514 bio je monomorfan. Rekonstruirana su 4 haplotipa koja su
translatirana u zvjezdaste alela od kojh je najučesaliji *1A i*1F. Usporedbom istraživanih
populacija temeljenoj na učestalosti haplotipova utvrđeno je kako populacije pokazuju
homogeno grupiranje prema geografskoj pripadnosti, dok su Romi najheterogenija skupina.
Balkanski Romi su najsličnija Europskim populacijama, Romi iz Baranje su smješteni između
Europljana i populacija južne Azije dok je populacija Roma iz Međimurja u potpunosti
odvojena.

Abstract (english)

The CYP1A2 gene encodes an enzyme involved in drug metabolism and is responsible for 95%
of primary caffeine metabolism. Variations in the CYP1A2 gene have been particularly poorly
studied in minority and/or isolated populations such as the Roma, a transnational population
of Indian descent living as a minority in almost all European countries. The main goal of the
study was to determine how demographic history and evolutionary mechanisms affect the
distribution of alleles and haplotypes of three pharmacogenetically relevant CYP1A2 gene
polymorphisms in three groups of Croatian Roma (Baranja, Međimurje and the Balkans).
Samples were genotyped by KASP (Competitive Allele Specific PCR). Genotyping data were
compared with the frequencies of the studied SNPs in European and Asian populations. In the
Croatian Roma groups of the 3 analyzed SNPs, rs2069514 was monomorphic. 4 haplotypes
were reconstructed and translated into stellar alleles, of which *1A and *1F are the most
common. A comparison of the studied populations based on the frequency of haplotypes
showed that the populations show a homogeneous grouping according to geographical
affiliation, while Roma are the most heterogeneous group. Balkan Roma are most similar to
European populations, Roma from Baranja are located between Europeans and South Asian
populations, while Roma population from Međimurje is completely separated.

• Keywords: ADME geni; haplotipovi; varijacije gena
• Keywords (english): ADME gene; haplotypes; gene variations
• Language: croatian
• URN:NBN: urn:nbn:hr:217:586461
• Study programme: Title: Integrated undergraduate and graduate university study of Biology and Chemistry Education; specializations in: Integrated undergraduate and graduate university study of Biology and Chemistry Education; Course: Integrated undergraduate and graduate university study of Biology and Chemistry Education; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: magistar/magistra edukacije biologije i kemije (magistar/magistra edukacije biologije i kemije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Embargoed access; Embargo expiration date: 2024-07-12
• Created on: 2022-07-19 10:57:46