Next Article in Journal
Association of Metabolic Parameter Variability with Esophageal Cancer Risk: A Nationwide Population-Based Study
Previous Article in Journal
A Handcrafted Radiomics-Based Model for the Diagnosis of Usual Interstitial Pneumonia in Patients with Idiopathic Pulmonary Fibrosis
Article

Untangling SNP Variations within CYP2D6 Gene in Croatian Roma

1
Institute for Anthropological Research, 10000 Zagreb, Croatia
2
Department for Translational Medicine, Srebrnjak Children’s Hospital, 10000 Zagreb, Croatia
3
Croatian Institute for Brain Research, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia
4
Department for Chemistry and Biochemistry, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia
*
Author to whom correspondence should be addressed.
Academic Editor: Chiara Villa
J. Pers. Med. 2022, 12(3), 374; https://doi.org/10.3390/jpm12030374
Received: 19 January 2022 / Revised: 18 February 2022 / Accepted: 23 February 2022 / Published: 28 February 2022
CYP2D6 is a highly polymorphic gene whose variations affect its enzyme activity. To assess whether the specific population history of Roma, characterized by constant migrations and endogamy, influenced the distribution of alleles and thus phenotypes, the CYP2D6 gene was sequenced using NGS (Next Generation Sequencing) method-targeted sequencing in three groups of Croatian Roma (N = 323) and results were compared to European and Asian populations. Identified single nucleotide polymorphisms (SNPs) were used to reconstruct haplotypes, which were translated into the star-allele nomenclature and later into phenotypes. A total of 43 polymorphic SNPs were identified. The three Roma groups differed significantly in the frequency of alleles of polymorphisms 6769 A > G, 6089 G > A, and 5264 A > G (p < 0.01), as well as in the prevalence of the five most represented star alleles: *1, *2, *4, *10, and *41 (p < 0.0001). Croatian Roma differ from the European and Asian populations in the accumulation of globally rare SNPs (6089 G > A, 4589 C > T, 4622 G > C, 7490 T > C). Our results also show that demographic history influences SNP variations in the Roma population. The three socio-culturally different Roma groups studied differ significantly in the distribution of star alleles, which confirms the importance of a separate study of different Roma groups. View Full-Text
Keywords: CYP2D6; ADME; pharmacogenetics; population genetics; star allele; Roma; Croatia CYP2D6; ADME; pharmacogenetics; population genetics; star allele; Roma; Croatia
Show Figures

Graphical abstract

MDPI and ACS Style

Stojanović Marković, A.; Zajc Petranović, M.; Tomas, Ž.; Puljko, B.; Šetinc, M.; Škarić-Jurić, T.; Peričić Salihović, M. Untangling SNP Variations within CYP2D6 Gene in Croatian Roma. J. Pers. Med. 2022, 12, 374. https://doi.org/10.3390/jpm12030374

AMA Style

Stojanović Marković A, Zajc Petranović M, Tomas Ž, Puljko B, Šetinc M, Škarić-Jurić T, Peričić Salihović M. Untangling SNP Variations within CYP2D6 Gene in Croatian Roma. Journal of Personalized Medicine. 2022; 12(3):374. https://doi.org/10.3390/jpm12030374

Chicago/Turabian Style

Stojanović Marković, Anita, Matea Zajc Petranović, Željka Tomas, Borna Puljko, Maja Šetinc, Tatjana Škarić-Jurić, and Marijana Peričić Salihović. 2022. "Untangling SNP Variations within CYP2D6 Gene in Croatian Roma" Journal of Personalized Medicine 12, no. 3: 374. https://doi.org/10.3390/jpm12030374

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop