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

Muñoz, Sebastián Andrés; Vollrath, Valeska; Vallejos, María Pía; Miquel, Juan Francisco; Covarrubias, Carmen; Raddatz, Alejandro; Chianale, José

doi:10.1097/00008571-199808000-00008

Cited by 55 publications

(45 citation statements)

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“…(Bradford, 2002). Moreover, the CYP2D6*10 frequency in the Amerindian group (0.3%) was similar to that of the Tepehuano (0%) (SosaMacías et al, 2006(SosaMacías et al, , 2010 and Mapuche (1.8%) (Muñoz et al, 1998) populations, but lower than other Amerindian populations (7.1% and 6.9%; p<0.05) (Bailliet et al, 2007;Jorge et al, 1999). A limitation of this study was that the number of individuals in the Afro-Caribbean population was low (n=49).…”

Section: Discussionmentioning

confidence: 59%

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Céspedes-Garro

Jiménez-Arce

Naranjo

et al. 2014

RBT

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CYP2D6 differences have already been demonstrated within Latin American populations by the CEIBA.FP Consortium of the Ibero-American Network of Pharmacogenetics (RIBEF, as per the acronym in Spanish). However, within the population of Costa Rica, no research has been conducted until now, even though this population has a trihybrid component ancestry that represents an interesting condition. Thus, the present study was aimed to determine the frequency of Ultra-rapid Metabolizers (UMs) and Poor Metabolizers (PMs) in a Costa Rican population, as well as to determine whether there are differences in the CYP2D6-predicted phenotype frequencies among three Costa Rican groups with different ethnic backgrounds. Additionally, these frequencies of PMs and UMs obtained were compared with

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Section: Discussionmentioning

confidence: 59%

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Céspedes-Garro

Jiménez-Arce

Naranjo

et al. 2014

RBT

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“…The frequency of the CYP2D6 * 2A allele in the Mestizo group (10.7%) is lower than that described in other Hispanic populations, which is reported in a range of 18-37% ( table 1 ), whereas in the Tepehuano Amerindian group its frequency (20%) is near that of the Mapuches of Chile (18.5%) [20] and Amerindians of Argentina and Paraguay (23.8%) [21] .…”

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confidence: 53%

Influence of CYP2D6 Deletion, Multiplication, –1584C→G, 31G→A and 2988G→A Gene Polymorphisms on Dextromethorphan Metabolism among Mexican Tepehuanos and Mestizos

et al. 2010

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The aim of this study was to explain the variability of CYP2D6 activity by the identification of CYP2D6 deletion and multiplications, and the single-nucleotide polymorphisms (SNPs) –1584C→G, 31G→A and 2988G→A in Mexican Mestizo and Tepehuano subjects. One hundred twelve Mestizos and 99 Tepehuano Amerindians were studied, who were previously phenotyped with dextromethorphan. The frequencies of CYP2D6*2A [–1584C→G] and *35 [–1584C→G, 31G→A] were 10.7 and 4.1%, respectively, in Mestizos, which is evidently a trend towards an extensive metabolism in carriers of the –1584G change. In Tepehuanos, *2A was identified with a frequency of 20%, and the allele *35 was not found. The frequencies of CYP2D6*5 (deletion) and *41[2988G→A] were 1.3 and 2.2% in Mestizos and 0.5 and 1% in Tepehuanos, respectively. The SNP 2988A was found to be significantly related with the intermediate metabolizer phenotype in Mestizos (R = 0.309; n = 88; p = 0.006). The multiplications had frequencies of 4.1% in Mestizos and 1.5% in Tepehuanos. Only in the Mestizos did the presence of multiplications significantly decrease the DM/DX (dextromethorphan/dextrorphan) values (R = 0.273; n = 88; p = 0.016). The polymorphisms studied had different frequencies between Tepehuanos and Mestizos (p < 0.001); however, in the Tepehuano group these had a low influence on their phenotypic expression. It helps to understand the genotype-phenotype relationships of CYP2D6 in our studied populations.

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“…UMs are at increased risk of not reaching therapeutic drug levels at ordinary dosing [1, 3, 7, 31]. Genotyping for most common CYP2D6 variant alleles in ethnically defined populations can predict PM and EM phenotypes with high accuracy [1,31,32,33,34,35,36,37,38,39,40,41]. Approximately 6–10% of Europeans lack CYP2D6 activity, as do 1–2% of Asians.…”

Section: Resultsmentioning

confidence: 99%

“…The Ngwabe had a 17 and 18% frequency for the CYP2D6 * 4 and CYP2D6 * 10 alleles, respectively, while the Embera showed a frequency of 14% for the CYP2D6 * 4 allele and 7% for the CYP2D6 * 10 allele [35]. The study of Munoz et al [36] of the Mapuche, an indigenous group in Chile, revealed the absence of the CYP2D6 * 3 allele and a low frequency of 3.6 and 1.8% for the CYP2D6 * 4 and CYP2D6 * 10 allelic variants, respectively. The Tepehuano group of Mexico lacked the PM phenotype and was found to have a low genotypic diversity ( CYP2D6 * 4, 0.6%) compared with the other indigenous Amerindian groups [37].…”

Section: Resultsmentioning

confidence: 99%

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Cytochrome P450 Enzyme Polymorphism Frequency in Indigenous and Native American Populations: A Systematic Review

Jaja

Burke

Thummel

et al. 2008

Public Health Genomics

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Objective: The purpose of our study was to evaluate the evidence on the prevalence of cytochrome P450 enzyme polymorphisms as potential genetic factors influencing drug efficacy and safety in the indigenous populations of the American hemispheres. Methods: We conducted a systematic review of studies published between 1985 and 2006 using the Pubmed database. Results: We identified only 10 original research studies on CYP2A6, CYP2D6, CYP2C9, CYP2C19 and CYP2E1 in 13 indigenous American populations. Interethnic differences in the frequency of CYP450 genetic variants existed both among the examined indigenous populations and in comparison with African, Asian and European populations. Conclusions: There are surprisingly few data on CYP450 enzyme polymorphisms in indigenous American populations, and it is difficult to draw any clear inferences about how these populations might be expected to respond to drugs in relation to other racial or ethnic groups. This lack of information could create a barrier to the use of pharmacogenetic testing in these populations. Collaborative partnerships between indigenous communities and researchers are needed to avail the clinical benefits of CYP450 enzyme polymorphism testing to indigenous populations.

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

Cited by 55 publications

References 0 publications

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Influence of <i>CYP2D6</i> Deletion, Multiplication, <i>–1584C</i>→<i>G</i>, <i>31G</i>→<i>A</i> and <i>2988G</i>→<i>A</i> Gene Polymorphisms on Dextromethorphan Metabolism among Mexican Tepehuanos and Mestizos

Cytochrome P450 Enzyme Polymorphism Frequency in Indigenous and Native American Populations: A Systematic Review

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