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- Title:
Characterization of the CYP2D6 gene locus and metabolic activity in Indo- and Afro-Trinidadians: discovery of novel allelic variants.
- Document type:
- Journal Article
- Author(s):
- Montané Jaime, LK; Lalla, A; Steimer, W; Gaedigk, A
- Abstract:
- Background: The highly polymorphic CYP2D6 gene has extensively been studied in many populations, but there is a void of knowledge regarding CYP2D6 pharmacogenetics and activity in populations with unique ancestries and admixture, such as those residing in Trinidad and Tobago. Materials & methods: 167 healthy Indo- and 103 Afro-Trinidadians were phenotyped with dextromethorphan and extensively genotyped. Gene resequencing was performed to resolve cases with genotype/phenotype discordance. Results: CYP2D6 activity did not differ between the Indo-Trinidadians and Afro-Trinidadians. Poor metabolizers were, however, more frequent in the Indo-Trinidadians (4.19 vs 1.94%), and unique allele frequency patterns were observed. Two novel nonfunctional allelic variants were found among the Indo-Trinidadians in two discordant cases. CYP2D6*100 is characterized by a single nucleotide deletion and CYP2D6*101 by a 19-bp deletion; both cause frameshifts. Conclusion: Our study underscores the importance of thoroughly characterizing the genetic make up of unique populations when considering pharmacogenetic testing for individualized therapy. Original submitted 15 October 2012; Revision submitted 7 December 2012.
- Journal title abbreviation:
- Pharmacogenomics
- Year:
- 2013
- Journal volume:
- 14
- Journal issue:
- 3
- Pages contribution:
- 261-76
- Language:
- eng
- Fulltext / DOI:
- doi:10.2217/pgs.12.207
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/23394389
- Print-ISSN:
- 1462-2416
- TUM Institution:
- Institut für Klinische Chemie und Pathobiochemie
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