Naslov
Phylogeographic distribution of CYP2D6 haplotypes

Autori
Stojanović Marković, Anita ; Zajc Petranović, Matea ; Peričić Salihović, Marijana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
PhD Student Symposium PMF 2021. Book of abstracts / Đaković, Marijana ; Bucković, Damir ; Korać, Petra ; Lukić, Aleksandar ; Marušić-Paloka, Eduard ; Novak, Predrag ; Pikelj, Kristina ; Smolčić, Vernesa ; Schneider, Petra - Zagreb : Prirodoslovno-matematički fakultet Sveučilišta u Zagrebu, 2021, 243-244

ISBN
978-953-6076-90-1

Skup
5. Simpozij studenata doktorskih studija PMF-a = 5th Faculty of Science PhD Student Symposium

Mjesto i datum
Zagreb, Hrvatska, 24.04.2021. - 25.04.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
CYP2D6 gene ; polymorphism ; haplotype ; 1000Genomes Project ; phylogeography

Sažetak
The CYP2D6 gene is located on chromosome 22q13.1 and consists of nine exons with an open reading frame of 1491 bp coding for a 497-amino acid protein [1]. This gene encodes CYP2D6 enzyme, which is responsible for metabolism of 25% of clinically prescribed drugs, although accounting for around 2% of total CYP content in the liver [2]. Due to difference in pharmacogenetic distribution of CYP2D6, we wanted to determine a phylogeographic distribution of SNP variation in this gene. The 1000 Genomes Project Phase 3 data on 26 worldwide populations with different genetic ancestry were used in this study. 271 polymorphic SNPs were identified and phased into haplotypes (PHASE v2.1). Reconstructed haplotypes were analysed using population genetics softwares in order to explore inter- and intra-population characteristics. In worldwide sample, 433 haplotypes were reconstructed. The highest nucleotide diversity was found in Africa. Highest haplotype diversity was detected in African ancestry populations and lowest in East Asian populations. FST pairwise differences grouped East Asian populations separately from other populations. Principal component analysis showed continental clustering for all but Central and South American populations. Tests of neutrality showed no background selection in any of investigated populations, while mismatch distribution suggests bottleneck effect in East Asian populations. Haplotype distribution showed significant differences between continental population groups. Phylogeographic differences of CYP2D6 gene suggest greater impact of demography than evolutionary forces like selection on SNP variation in this gene. ACKNOWLEDGMENTS The research was funded by Croatian Science Foundation grant (HRZZ-IP- 2014-09-4454) to MPS and DOK-2018-01. REFERENCES [1] S Kimura, M. Umeno, R.C. Skodaj, U.A. Meyert, F.J. Gonzalez, Am. J. Hum. Genet. 45 (1989) 889-904 [2] U. M. Zanger, S. Raimundo, M. Eichelbaum, Naunyn-Schmiedebergs Arch. Pharmacol 369 (2004) 23-37

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Etnologija i antropologija

POVEZANOST RADA