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Untangling SNP Variations within CYP2D6 Gene in Croatian Roma.
Stojanovic Markovic, Anita; Zajc Petranovic, Matea; Tomas, Zeljka; Puljko, Borna; Setinc, Maja; Skaric-Juric, Tatjana; Pericic Salihovic, Marijana.
Affiliation
  • Stojanovic Markovic A; Institute for Anthropological Research, 10000 Zagreb, Croatia.
  • Zajc Petranovic M; Institute for Anthropological Research, 10000 Zagreb, Croatia.
  • Tomas Z; Department for Translational Medicine, Srebrnjak Children's Hospital, 10000 Zagreb, Croatia.
  • Puljko B; Croatian Institute for Brain Research, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
  • Setinc M; Department for Chemistry and Biochemistry, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
  • Skaric-Juric T; Institute for Anthropological Research, 10000 Zagreb, Croatia.
  • Pericic Salihovic M; Institute for Anthropological Research, 10000 Zagreb, Croatia.
J Pers Med ; 12(3)2022 Feb 28.
Article in En | MEDLINE | ID: mdl-35330374
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.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: J Pers Med Year: 2022 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: J Pers Med Year: 2022 Document type: Article Affiliation country: Country of publication: