The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure
Abstract
BACKGROUND AND OBJECTIVE: CYP2D6, a member of the cytochrome P450 superfamily, is responsible for the metabolism of about 25% of the commonly prescribed drugs. Its activity ranges from complete deficiency to excessive activity, potentially causing toxicity of medication or therapeutic failure with recommended drug dosages. This study aimed to describe the CYP2D6 diversity at the global level. METHODS: A total of 1060 individuals belonging to 52 worldwide-distributed populations were genotyped at 12 highly informative variable sites, as well as for gene deletion and duplications. Phenotypes were predicted on the basis of haplotype combinations. RESULTS AND CONCLUSIONS: Our study shows that (i) CYP2D6 diversity is far greater within than between populations and groups thereof, (ii) null or low-activity variants occur at high frequencies in various areas of the world, (iii) linkage disequilibrium is lowest in Africa and highest in the Americas. Patterns of variation, within and among populations, are similar to those observed for other autosomal markers (e.g. microsatellites and protein polymorphisms), suggesting that the diversity observed at the CYP2D6 locus reflects the same factors affecting variation at random genome markers.
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Excoffier, L., Smouse, P. E., & Quattro, J. M. (1992) · Genetics · doi:10.1093/genetics/131.2.479 · Cited by 13,929
Dalapicolla, J., do Prado, J. R., Percequillo, A. R., & Knowles, L. L. (2021) · Journal of Biogeography · doi:10.1111/jbi.14281 · Cited by 11,461
TCS: a computer program to estimate gene genealogies
Clement, M., Posada, D., & Crandall, K. A. (2000) · Molecular Ecology · doi:10.1046/j.1365-294x.2000.01020.x · Cited by 9,861
A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,493
DnaSP, DNA polymorphism analyses by the coalescent and other methods
Rozas, J., Sánchez-DelBarrio, J. C., Messeguer, X., & Rozas, R. (2003) · Bioinformatics · doi:10.1093/bioinformatics/btg359 · Cited by 6,131
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data
Stephens, M., & Donnelly, P. (2003) · The American Journal of Human Genetics · doi:10.1086/379378 · Cited by 3,513
The History and Geography of Human Genes: Abridged paperback Edition
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175
Genetic Structure of Human Populations
Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kidd, K. K., Zhivotovsky, L. A., & Feldman, M. W. (2002) · Science · doi:10.1126/science.1078311 · Cited by 2,222
Linkage disequilibrium in finite populations
Hill, W. G., & Robertson, A. (1968) · Theoretical and Applied Genetics · doi:10.1007/bf01245622 · Cited by 2,035
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Triposkiadis, F., Karayannis, G., Giamouzis, G., Skoularigis, J., Louridas, G., & Butler, J. (2009) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2009.05.015 · Cited by 978
Eissing, T. (2011) · Frontiers in Physiology · doi:10.3389/fphys.2011.00004 · Cited by 204
Pharmacogenetic variation at CYP2C9, CYP2C19, and CYP2D6 at global and microgeographic scales
Sistonen, J., Fuselli, S., Palo, J. U., Chauhan, N., Padh, H., & Sajantila, A. (2009) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32831ebb30 · Cited by 200
Self-citationMeclizine Metabolism and Pharmacokinetics: Formulation on Its Absorption
Wang, Z., Lee, B., Pearce, D., Qian, S., Wang, Y., Zhang, Q., & Chow, M. S. S. (2012) · The Journal of Clinical Pharmacology · doi:10.1177/0091270011414575 · Cited by 44
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Metadata
- Authors
- Sistonen, J., Sajantila, A., Lao, O., Corander, J., Barbujani, G., & Fuselli, S.
- Venue
- Pharmacogenetics and Genomics
- Published
- 2007-02
- Volume
- 17
- Issue
- 2
- Pages
- 93-101
- ISSN
- 1744-6872 (ISSN-L)
- OpenAlex
- W196795570
- Cited by
- 398
- References
- 51
- FWCI
- 23.20
- Type
- journal article
- Language
- en
- Open access
- closed
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- Sistonen, J., Sajantila, A., Lao, O., Corander, J., Barbujani, G., & Fuselli, S. (2007). CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenetics and Genomics. https://doi.org/10.1097/01.fpc.0000239974.69464.f2
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