Naslov
Pharmacogenetic profile of CYP2D6 gene in Croatian Roma

Autori
Anita Stojanović Marković

Vrsta, podvrsta i kategorija rada
Ocjenski radovi, doktorska disertacija

Fakultet
Prirodoslovno-matematički fakultet, Biološki odsjek

Mjesto
Zagreb

Datum
17.02

Godina
2023

Stranica
138

Mentor
Marijana Peričić Salihović

Ključne riječi
CYP2D6 gene, Roma population, ADME genes, pharmacogenetics, personalized medicine, single nucleotide polymorphism, haplotype

Sažetak
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 socio- culturally 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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Etnologija i antropologija

POVEZANOST RADA