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doctoral thesis
PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA
Zagreb: University of Zagreb, Faculty of Science, 2023. urn:nbn:hr:217:424038
Stojanović Marković, Anita
University of Zagreb
Faculty of Science
Department of Biology

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Stojanović Marković, A. (2023). PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA (Doctoral thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:424038

Stojanović Marković, Anita. "PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA." Doctoral thesis, University of Zagreb, Faculty of Science, 2023. https://urn.nsk.hr/urn:nbn:hr:217:424038

Stojanović Marković, Anita. "PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA." Doctoral thesis, University of Zagreb, Faculty of Science, 2023. https://urn.nsk.hr/urn:nbn:hr:217:424038

Stojanović Marković, A. (2023). 'PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA', Doctoral thesis, University of Zagreb, Faculty of Science, accessed 20 April 2024, https://urn.nsk.hr/urn:nbn:hr:217:424038

Stojanović Marković A. PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA [Doctoral thesis]. Zagreb: University of Zagreb, Faculty of Science; 2023 [cited 2024 April 20] Available at: https://urn.nsk.hr/urn:nbn:hr:217:424038

A. Stojanović Marković, "PHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA", Doctoral thesis, University of Zagreb, Faculty of Science, Zagreb, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:217:424038

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Metadata
TitlePHARMACOGENETIC PROFILE OF CYP2D6 GENE IN CROATIAN ROMA
Title (english)FARMAKOGENETSKI PROFIL GENA CYP2D6 ROMA U HRVATSKOJ
AuthorAnita Stojanović Marković
MentorMarijana Peričić Salihović (mentor)
Committee memberPetra Korać (predsjednik povjerenstva)
Committee memberAna Galov (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2023, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Universal decimal classification
(UDC)		577 - Biochemistry. Molecular biology. Biophysics
Abstract
The CYP2D6 gene encodes the homonymous enzyme responsible for the metabolism of about 25% of clinically prescribed drugs, although it accounts for only 2% of all cytochromes in the human liver. The Roma are an example of a founder population where centuries of isolation and migrations have left their mark on the gene pool. Results of this study showed the influence of demographic history on single nucleotide polymorphisms in three socioculturally different studied Roma populations. Their South Asian origin is seen in the frequencies of polymorphic variants, as well as the increased frequency of star alleles *10 and *41. Phenotypically, normal metabolizers are the most common among Roma (51.6-65.1%), while slow metabolizers are the least common (0-7.4%). The similarity of the Roma population to European and Asian populations is evident from the LD pattern of the CYP2D6 gene region. The three Roma groups differ significantly (p<0.0001) in the distribution of the five most represented haplotypes (*1, *2, *4, *10, *41), which confirms the need to investigate them as separate groups for more accurate prescription of drugs that are metabolized by CYP2D6.
Abstract (english)
Gen CYP2D6 kodira za istoimeni enzim odgovaran za metabolizam oko 25% klinički propisanih lijekova iako čini samo 2% svih citokroma u jetri čovjeka. Romi su primjer populacije utemeljitelja u kojoj su višestoljetna izolacija i migracije ostavile traga u njihovih zalihi gena. Rezultati ovog istraživanja su pokazali utjecaj demografske povijesti na varijacije polimorfizma jednog nukleotida u tri socio-kulturno različite, istraživane romske populacije. Njihovo južnoazijsko porijeklo očituje se u frekvencijama polimorfnih varijanti, kao i povećanoj frekvenciji zvjezdastih alela *10 i *41. Fenotipski gledano, kod Roma je najučestaliji normalni metabolizator (51,6-65,1%), dok je spori najmanje zastupljen (0-7,4%). Sličnost Roma europskim i azijskim populacijama vidljiva je iz obrasca LD-a genske regije CYP2D6. Tri romske skupine se značajno razlikuju (p<0,0001) u distribuciji pet najzastupljenijih haplotipova (*1, *2, *4, *10, *41), što potvrđuje potrebu da se u istraživanjima proučavaju kao zasebne grupe radi točnijeg propisivanja lijekova koje metabolizira CYP2D6.
Keywords
Keywords (english)
Languageenglish
URN:NBNurn:nbn:hr:217:424038
Promotion2023
Study programmeTitle: Biology
Study programme type: university
Study level: postgraduate
Academic / professional title: doktor/doktorica znanosti, područje prirodnih znanosti, polje biologija (doktor/doktorica znanosti, područje prirodnih znanosti, polje biologija)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
RepositoryRepository of the Faculty of Science
Created on2023-02-28 13:45:47

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