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

Jaja, Cheedy; Burke, Wylie; Thummel, Ken; Edwards, Karen L.; Veenstra, David L.

doi:10.1159/000113876

Cited by 41 publications

(38 citation statements)

References 95 publications

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“…It is striking that Amerindian populations, of Mongoloid origin, have such low frequencies of this allele. Which factors may have been important in producing the current observed frequencies of the CYP2D6 * 10 allele (0-3%) [10,11] in Amerindian populations? The drastic decrease of the CYP2D6 * 10 allele may be due to a repeated founder effect [28,29] , although other explanations are possible [28] .…”

Section: Resultsmentioning

confidence: 99%

“…The genetic polymorphism of CYP2D6 has rarely been studied in South American Mestizo populations almost without African ancestry, including the Chilean population [9,10] . Few studies have evaluated the prevalence of CYP2D6 variants; most of these were carried out in indigenous populations [10,11] .…”

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confidence: 99%

“…Few studies have evaluated the prevalence of CYP2D6 variants; most of these were carried out in indigenous populations [10,11] . For Chile, there is one study on the prevalence of CYP2D6 variants in the Mapuche population [12] and two studies in the Mestizo population [13,14] .…”

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confidence: 99%

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Genetic Variants of Cytochrome CYP2D6 in Two Mixed Chilean Populations

Acuña

Pinto²,

Olivares³

et al. 2016

Hum Hered

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Objectives: It is known that the interindividual and interethnic variability of the genetic polymorphisms of CYP2D6 plays an important role in the presentation of adverse drug reactions and concerning lack of therapeutic effects in humans. However, there are few data available from mixed populations of Latin America, including the Chilean. The aim of this study was therefore to estimate the frequencies of CYP2D6 variants in two samples of hospitals from the northern (Hospital San José, HSJ) and eastern (Clínica Las Condes, CLC) parts of Santiago, Chile, with different degrees of Amerindian admixture (HSJ: 34.5%; CLC: 15.9%). Methods: We used polymerase chain reaction followed by restriction endonuclease digestion (PCR-RFLP) to genotype 7 CYP2D6 alleles in 250 healthy unrelated individuals of Chilean Mestizo background. The detection of allele CYP2D6*5 and the duplication of this gene was performed by long-PCR. Results: The degrees of Amerindian admixture are reflected in the observed frequencies of the CYP2D6*1 (HSJ: 58.26%; CLC: 41.06%), CYP2D6*2 (HSJ: 28.10%; CLC: 40.65%), and CYP2D6*4 (HSJ: 8.26%; CLC: 12.60%) alleles; the frequencies of CYP2D6*1 (p = 0.0002) and CYP2D6*2 (p = 0.0036) are significantly different between the samples. Four individuals (CLC: 0.41%; HSJ: 1.24%) could not be assigned to a genotype. We identified 3.25% of the genotypes which predict a poor metabolizer phenotype in CLC and 1.65% in HSJ. Conclusion: Our data indicate ethnic group-dependent genetic differences in the vulnerability to treatment with the large variety of drugs metabolized by the enzyme CYP2D6.

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Section: Resultsmentioning

confidence: 99%

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Genetic Variants of Cytochrome CYP2D6 in Two Mixed Chilean Populations

Acuña

Pinto²,

Olivares³

et al. 2016

Hum Hered

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“…Second, in the distribution of CYP2C19, the Vietnamese-Koreans have low frequency of *17 (2.0%) compared to Caucasians and African-Americans (~20% and 17-18%). In addition, the proportion of poor metabolizers (PMs) is 9.4% of VietnameseKoreans, 12-23% of Asians, 1-8% of Europeans, and 1-8% of Black Africans, [33] suggesting that the Vietnamese-Koreans exhibit higher frequency of PM alleles than Caucasians and Black Africans. Third, the CYP2D6 showed various allele distributions through ethnic groups.…”

Section: Transl Clin Pharmacolmentioning

confidence: 99%

Genetic polymorphisms of CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in Vietnamese-Koreans

Lim

Cha

Jung

et al. 2014

Transl Clin Pharmacol

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“…Native American (Amerindian) populations are poorly represented in PGx research and PGx databases (reviewed by Jaja et al, 2008). The extant Amerindian population of Brazil is very diverse, consisting of more than 227 ethnic groups speaking more than 180 languages 4 .…”

Section: Studies In Amerindian Groups Living In Brazilmentioning

confidence: 99%

Pharmacogenetics in the Brazilian Population

Suarez‐Kurtz¹

Racial Identities, Genetic Ancestry, and Health in South America

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Brazil is the fifth largest country in the world and its present population, in excess of 190 million, is highly heterogeneous, as a result of centuries of admixture between Amerindians, Europeans, and Sub-Saharan Africans. The estimated individual proportions of biogeographical ancestry vary widely and continuously among Brazilians: most individuals, irrespective of self-identification as White, Brown or Black -the major categories of the Brazilian Census "race/color" system -have significant degrees of European and African ancestry, while a sizeable number display also Amerindian ancestry. These features have important pharmacogenetic (PGx) implications: first, extrapolation of PGx data from relatively well-defined ethnic groups is clearly not applicable to the majority of Brazilians; second, the frequency distribution of polymorphisms in pharmacogenes (e.g., CYP3A5, CYP2C9, GSTM1, ABCB1, GSTM3, VKORC, etc) varies continuously among Brazilians and is not captured by race/color self-identification; third, the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of PGx studies in order to avoid spurious conclusions based on improper matching of study cohorts. The peculiarities of PGx in Brazilians are illustrated with data for different therapeutic groups, such as anticoagulants, HIV protease inhibitors and non-steroidal antinflammatory drugs, and the challenges and advantages created by population admixture for the study and implementation of PGx are discussed. PGx data for Amerindian groups and Brazilian-born, first-generation Japanese are presented to illustrate the rich diversity of the Brazilian population. Finally, I introduce the reader to the Brazilian Pharmacogenetic Network or Refargen 1 , a nation-wide consortium of research groups, with the mission to provide leadership in PGx research and education in Brazil, with a population health impact.Keywords: biogeographical ancestry, Brazilian pharmacogenetic network, population admixture, warfarin, HIV protease inhibitors, non-steroidal anti-inflammatory drugs databases, in consonance with either the first or the second models described by Pena (2007). However, both models are poor descriptors of admixed populations, since genetic admixture is best modeled as a continuous variable, consistent with the VMG paradigm Pena, 2006, 2007;Pena, 2007). The individual uniqueness that is central to this paradigm implies that "each person must be treated as an individual… rather than as an exemplar of a race" (Patrinos, 2004) or in the words of McLeod (2007) "data from ethnic groups will not be as useful as analysis of individuals patients. While knowledge of ethnic differences may be relevant to much of the world's population, its usefulness is significantly limited in situations of extensive genetic mixing". With increasing global migration, admixture gains relevance as an additional challenge to the successful worldwide implementation of PGx in clinical practice. From this perspective, the Brazilian population, ...

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

Cited by 41 publications

References 95 publications

Genetic Variants of Cytochrome <b><i>CYP2D6</i></b> in Two Mixed Chilean Populations

Genetic Variants of Cytochrome <b><i>CYP2D6</i></b> in Two Mixed Chilean Populations

Genetic polymorphisms of CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in Vietnamese-Koreans

Pharmacogenetics in the Brazilian Population

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