Genetic polymorphisms of CYP2D6, CYP1A1 and CYP2E1 in the South-Amerindian population of Chile

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dc.contributor.authorMunoz, S
dc.contributor.authorVollrath, V
dc.contributor.authorVallejos, MP
dc.contributor.authorMiquel, JF
dc.contributor.authorCovarrubias, C
dc.contributor.authorRaddatz, A
dc.contributor.authorChianale, T
dc.date.accessioned2024-01-10T12:05:41Z
dc.date.available2024-01-10T12:05:41Z
dc.date.issued1998
dc.description.abstractPolymorphisms of cytochrome P450 genes show pronounced interethnic variation and have not been previously studied in the South-Amerindian population, which probably has an Asian origin. Therefore, a similar distribution of allelic and haplotype frequencies of cytochrome P450 genes to Asian populations might be expected in South-Amerindians. We analysed the allelic frequencies and haplotype distribution for CYP2D6, CYP1A1 and CYP2E1 genes in the South-Amerindian population of Chile (Mapuche, n = 84) by Southern blot or polymerase chain reaction-restriction fragment length polymorphism. Similar allelic frequencies and haplotype distribution for the CYP2E1 gene between Mapuches and Asian populations were observed, Frequencies of the two major functional CYP2D6*1 and CYP2D6*2 alleles and the CYP2D6*5 null allele were similar to most populations world-wide, The alleles CYP2D6*3 and *9, absent in Asians, were not found in Mapuches. The CYP2D6*4 allelic group, uncommon in Asian populations, had a low frequency in Mapuches (0.036), However, the CYP2D6*10 allele (Ch1, Ch2 and J), highly frequent in Asians (0.33-0.50), had a very low frequency (0.018) in oar study population. In addition, the presence of the common Chinese 44 kb XbaI fragment of CYP2D6 (0.19-0.31 in Asians) was not detected in South-Amerindians. Interestingly, high frequencies for the rare m2 and Val alleles of the CYP1A1 gene were found in Mapuches (0.821 and 0.91, respectively), and the rare Val/m2 haplotype was significantly higher in Mapuches (0.748) than in Asians (0.24) (P < 0.01), The frequency of this haplotype in Mapuches is the highest frequency reported to date. The population studied was in Hardy-Weinberg equilibrium for these polymorphisms. The major differences between Mapuches and Asians were for CYP2D6*10 and CYP1A1 allelic frequencies, as web as the absence of the common Chinese 44 kb XbaI fragment of CYP2D6. These differences might be interpreted as a consequence of genetic drifts caused by a founder effect in the settlement of South-Amerindians, or genetic selection caused by dietary or environmental factors. Pharmacogenetics 8:343-351 (C) 1998 Lippincott-Raven Publishers.
dc.fechaingreso.objetodigital2024-06-25
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.issn0960-314X
dc.identifier.pubmedidMEDLINE:9731721
dc.identifier.wosidWOS:000075459400008
dc.information.autorucMedicina;Chianale J;S/I;99780
dc.information.autorucMedicina;Miquel J;S/I;72216
dc.issue.numero4
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final351
dc.pagina.inicio343
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.revistaPHARMACOGENETICS
dc.rightsacceso restringido
dc.subjectCYP
dc.subjectCYP2D6
dc.subjectCYP1A1
dc.subjectCYP2E1
dc.subjectpolymorphism
dc.subjectSouth-Amerindians
dc.subjectMapuches
dc.subjectMestizos
dc.subjectFRAGMENT-LENGTH-POLYMORPHISM
dc.subjectLUNG-CANCER
dc.subjectDEBRISOQUINE HYDROXYLATION
dc.subjectCYTOCHROME-P450IA1 GENE
dc.subjectALLELE
dc.subjectRISK
dc.subjectSUSCEPTIBILITY
dc.subjectASSOCIATION
dc.subjectCHINESE
dc.subjectREGION
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleGenetic polymorphisms of CYP2D6, CYP1A1 and CYP2E1 in the South-Amerindian population of Chile
dc.typeartículo
dc.volumen8
sipa.codpersvinculados99780
sipa.codpersvinculados72216
sipa.indexWOS
sipa.trazabilidadCarga SIPA;09-01-2024
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