Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma
<i>CYP2D6</i> 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 <i>CYP2D6</i>...
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MDPI AG
2022-02-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/12/3/374 |
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| author | Anita Stojanović Marković Matea Zajc Petranović Željka Tomas Borna Puljko Maja Šetinc Tatjana Škarić-Jurić Marijana Peričić Salihović |
| author_facet | Anita Stojanović Marković Matea Zajc Petranović Željka Tomas Borna Puljko Maja Šetinc Tatjana Škarić-Jurić Marijana Peričić Salihović |
| author_sort | Anita Stojanović Marković |
| collection | DOAJ |
| description | <i>CYP2D6</i> 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 <i>CYP2D6</i> gene was sequenced using NGS (Next Generation Sequencing) method-targeted sequencing in three groups of Croatian Roma (<i>N</i> = 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 (<i>p</i> < 0.01), as well as in the prevalence of the five most represented star alleles: <i>*1</i>, <i>*2</i>, <i>*4</i>, <i>*10</i>, and <i>*41</i> (<i>p</i> < 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. |
| first_indexed | 2024-03-09T13:39:59Z |
| format | Article |
| id | doaj.art-069977edf3bc476db47b5dc97c671cbc |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T13:39:59Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-069977edf3bc476db47b5dc97c671cbc2023-11-30T21:07:34ZengMDPI AGJournal of Personalized Medicine2075-44262022-02-0112337410.3390/jpm12030374Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian RomaAnita Stojanović Marković0Matea Zajc Petranović1Željka Tomas2Borna Puljko3Maja Šetinc4Tatjana Škarić-Jurić5Marijana Peričić Salihović6Institute for Anthropological Research, 10000 Zagreb, CroatiaInstitute for Anthropological Research, 10000 Zagreb, CroatiaDepartment for Translational Medicine, Srebrnjak Children’s Hospital, 10000 Zagreb, CroatiaCroatian Institute for Brain Research, School of Medicine, University of Zagreb, 10000 Zagreb, CroatiaInstitute for Anthropological Research, 10000 Zagreb, CroatiaInstitute for Anthropological Research, 10000 Zagreb, CroatiaInstitute for Anthropological Research, 10000 Zagreb, Croatia<i>CYP2D6</i> 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 <i>CYP2D6</i> gene was sequenced using NGS (Next Generation Sequencing) method-targeted sequencing in three groups of Croatian Roma (<i>N</i> = 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 (<i>p</i> < 0.01), as well as in the prevalence of the five most represented star alleles: <i>*1</i>, <i>*2</i>, <i>*4</i>, <i>*10</i>, and <i>*41</i> (<i>p</i> < 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.https://www.mdpi.com/2075-4426/12/3/374<i>CYP2D6</i>ADMEpharmacogeneticspopulation geneticsstar alleleRoma |
| spellingShingle | Anita Stojanović Marković Matea Zajc Petranović Željka Tomas Borna Puljko Maja Šetinc Tatjana Škarić-Jurić Marijana Peričić Salihović Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma Journal of Personalized Medicine <i>CYP2D6</i> ADME pharmacogenetics population genetics star allele Roma |
| title | Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma |
| title_full | Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma |
| title_fullStr | Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma |
| title_full_unstemmed | Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma |
| title_short | Untangling SNP Variations within <i>CYP2D6</i> Gene in Croatian Roma |
| title_sort | untangling snp variations within i cyp2d6 i gene in croatian roma |
| topic | <i>CYP2D6</i> ADME pharmacogenetics population genetics star allele Roma |
| url | https://www.mdpi.com/2075-4426/12/3/374 |
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