Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: an investigative and comparative study

Bravo-Villalta, Heydy Varinia; Yamamoto, Keiji; Nakamura, Katsunori; Bayá, Ana; Okada, Yuko; Horiuchi, Ryuya

doi:10.1007/s00228-004-0890-5

Cited by 81 publications

(41 citation statements)

References 47 publications

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“…This suggests, in general, limited frequency of PM phenotypes in Mexican populations. Compared with previous reports, the frequency of homozygous *2/*2 in Mexican-Mestizos (1.4%) is similar to those observed in Mestizos of Colombia and Bolivia (Bravo-Villalta et al, 2005;Isaza et al, 2007). However, a previous study also carried out in western Mexican Mestizos, but based on the metabolic ratio (MR log) omeprazole/hydroxy-omeprazole, estimated a frequency of 6% for PM (González et al, 2003).…”

Section: Cyp2c19 Genotype Frequenciessupporting

confidence: 77%

Distribution of CYP2D6 and CYP2C19 Polymorphisms Associated with Poor Metabolizer Phenotype in Five Amerindian Groups and Western Mestizos from Mexico

Salazar-Flores

Torres-Reyes

Martínez-Cortés

et al. 2012

Genetic Testing and Molecular Biomarkers

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Background: The distribution of polymorphisms in the CYP2D6 and CYP2C19 genes allows inferring the potential risk for specific adverse drug reactions and lack of therapeutic effects in humans. This variability shows differences among human populations. The aim of this study was to analyze single-nucleotide polymorphisms related to a poor metabolizer (PM) phenotype in nonpreviously studied Amerindian groups and Mestizos (general admixed population) from Mexico. Methods: We detected by SNaPshot Ò different polymorphisms located in CYP2D6 (*3, *4, *6, *7, and *8) and CYP2C19 (*2, *3, *4 and *5) in western Mestizos (n = 145) and five Amerindian groups from Mexico: Tarahumaras from the North (n = 88); Purépechas from the Center (n = 101); and Tojolabales (n = 68), Tzotziles (n = 88), and Tzeltales (n = 20) from the Southeast. Genotypes were observed by capillary electrophoresis. The genetic relationships among these populations were estimated based on these genes. Results and Discussion: The wild-type allele (*1) of both genes was predominant in the Mexican populations studied. The most widely observed alleles were CYP2C19*2 (range, 0%-31%) and CYP2D6*4 (range, 1.2%-7

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Section: Cyp2c19 Genotype Frequenciessupporting

confidence: 77%

Distribution of CYP2D6 and CYP2C19 Polymorphisms Associated with Poor Metabolizer Phenotype in Five Amerindian Groups and Western Mestizos from Mexico

Salazar-Flores

Torres-Reyes

Martínez-Cortés

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…These include Brazil, 35 Iran, 36,37 East Asia, 38 Ghana, 39 United States Ashkenazi Jews, 40 Greece, 41 Mexican Americans, 42 Bolivia, 43 Israel, 44 Malaysia, 45 Egypt, 46 and whites of European descent. 47 However, these studies were limited to a small number of deficiency alleles and did not include the *17 gain-of-function allele.…”

mentioning

confidence: 99%

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Strom

Goos

Crossley

et al. 2012

Genetics in Medicine

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Purpose:We sought to determine the genotype frequencies for cytochrome p450 enzyme 2C19 variant alleles both in the US panethnic population and various US ethnic groups and to establish the frequency of clinically actionable genotypes. methods:Analytical results were obtained from 1,396 consecutive samples submitted for cytochrome p450 enzyme 2C19 genotyping tests and stored in a proprietary database. This database was queried and genotypes and predicted phenotypes established. Anonymized samples were obtained from specimens submitted for cystic fibrosis genotyping that contained ethnicity information. Samples from 357, 149, and 346 individuals self-identified as white, African American, and Hispanic, respectively, were analyzed. In addition, 342 anonymized samples submitted for Ashkenazi Jewish panel testing were analyzed.Results: Significant ethnic differences were observed in the frequencies of the *17 ultrarapid allele among the various groups studied. In the pan-ethnic population, 3.8% of tested patients were classified as ultrarapid metabolizers, 24% as extensive metabolizers heterozygous for a *17 ultrarapid allele, 27% as intermediate metabolizers, and 3.5% as poor metabolizers. Using stringent criteria, 7.3% of individuals would have clinically actionable genotypes. In addition, we detected two individuals with a haplotype of *2/*17 and a single individual with a haplotype of *4/*17 indicating that the *17 hypermetabolic allele can occur on a *1, *2, or *4 background.Genet Med 2012:14(1):95-100

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“…More than 16 allelic variants have been reported in CYP2C19 that explain 10-12% of the variability in platelet response [10,21,22]. CYP2C19 has both loss-offunction alleles (CYP2C19*2, CYP2C19*3) and a gain-of-function allele (CYP2C19*17 ).…”

Section: Genementioning

confidence: 99%

Pharmacogenetic Landscape of Clopidogrel in North Indians Suggest Distinct Interpopulation Differences in Allele Frequencies

et al. 2014

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Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: an investigative and comparative study

Cited by 81 publications

References 47 publications

Distribution of CYP2D6 and CYP2C19 Polymorphisms Associated with Poor Metabolizer Phenotype in Five Amerindian Groups and Western Mestizos from Mexico

Distribution of CYP2D6 and CYP2C19 Polymorphisms Associated with Poor Metabolizer Phenotype in Five Amerindian Groups and Western Mestizos from Mexico

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Pharmacogenetic Landscape of Clopidogrel in North Indians Suggest Distinct Interpopulation Differences in Allele Frequencies

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