Worldwide interethnic variability and geographical distribution of CYP2C9 genotypes and phenotypes

Céspedes-Garro, Carolina; Fricke-Galindo, Ingrid; Naranjo, M.E.G.; Rodrigues‐Soares, Fernanda; Fariñas, Humberto; Andrés, Fernando de; López-López, Marisol; Peñas-Lledó, Eva; LLerena, Adrián

doi:10.1517/17425255.2015.1111871

Cited by 49 publications

(44 citation statements)

References 110 publications

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“…In recent years, there has been considerable interest in research on the diversity of drug-metabolizing enzyme genotypes and phenotypes, in particular CYP2D6, in different populations, especially those of European origin [38,39]. Other population groups have also been the target of this research, albeit on a much smaller scale.…”

Section: Rationalementioning

confidence: 99%

The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review

Leitão

Souza

Rodrigues

et al. 2020

Genes

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Background: the CYP2D6 gene is clinically important and is known to have a number of variants. This gene has four distinct metabolization profiles that are determined by the different allelic forms present in the individual. The relative frequency of these profiles varies considerably among human populations around the world. Populations from more isolated regions, such as Native Americans, are still relatively poorly studied, however. Even so, recent advances in genotyping techniques and increasing interest in the study of these populations has led to a progressive increase in publication rates. Given this, the review presented here compiled the principal papers published on the CYP2D6 gene in Amerindian populations to determine the metabolic profile of this group. Methods: a systematic literature review was conducted in three scientific publication platforms (Google Scholar, Science Direct, and Pubmed). The search was run using the keywords “CYP2D6 Amerindians” and “CYP2D6 native Americans”. Results: a total of 13 original papers met the inclusion criteria established for this study. All the papers presented frequencies of the different CYP2D6 alleles in Amerindian populations. Seven of the papers focused specifically on Amerindian populations from Mexico, while the others included populations from Argentina, Chile, Costa Rica, Mexico, Paraguay, Peru, and the United States. The results of the papers reviewed here showed that the extensive metabolization profile was the most prevalent in all Amerindian populations studied to date, followed by the intermediate, slow, and ultra-rapid, in that order. Conclusion: the metabolization profiles of the Amerindian populations reviewed in the present study do not diverge in any major way from those of other populations from around the world. Given the paucity of the data available on Amerindian populations, further research is required to better characterize the metabolization profile of these populations to ensure the development of adequate therapeutic strategies.

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Section: Rationalementioning

confidence: 99%

The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review

Leitão

Souza

Rodrigues

et al. 2020

Genes

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“…Existing data suggests that the CYP2C9*2 and *3 alleles are present in approximately 35% of Caucasian individuals, but significantly less so in African-American and Asian populations [83]. Similar differences have been observed between Amerindians and Admixed or European populations [113] as well as Swedes and Koreans [114]. Thus, for example, CYP2C9*2 and *3 variants were more frequent among white populations than in Africans and Asians, while CYP2C9*2 was detected only in Asians [115].…”

Section: Impact Of Ethnicity On the Role Of Genetic Variations In Antmentioning

confidence: 63%

Ethnicity and Response to Drug Therapy

Al‐Rasheed¹,

Dzimiri²

2016

Cholesterol Lowering Therapies and Drugs

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Hypercholesterolemia is a complex disorder presenting in different forms, including the familial form (FH), with varying underlying aetiology, and contributing substantially to coronary artery disease. Particularly, the FH underlies monogenic changes in genes involved in cholesterol synthesis and transport, including the low density lipoprotein receptor, proprotein convertase sublitisin/kexin type 9 and apolipoprotein B. However, hyperlipidemia is largely a complex interaction of changes in multiple genes with environmental factors, such as diet, overweight and obesity that are controllable by adopting healthy eating habits and exercise, which may vary by ethnicity. Diet alone is often not adequate to achieve the desired lipid lowering effect in individuals harbouring very high cholesterol levels, necessitating the use of lipid lowering medication or other forms of therapy. Antilipidemic drugs fall into (a) bile acid sequestrants (b) cholesterol absorption inhibitors, (c) 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, (d) fibric acid derivatives (e) proprotein convertase subtilisin/kexin type 9 inhibitors, (f) miscellaneous agents and (g) drug combinations. Mutations in their various metabolizing enzymes, particularly the cytochrome P450 family, often lead to partially/non-functional, or even rapid metabolizing phenotypes, triggering great variations in the way individuals respond to drug therapy, which in turn depends on ethnicity. This may produce unexpected outcomes such as therapeutic failure, adverse side effects and toxicity in individuals of different ethnic origin. Hence, in-depth information of the impact of ethnicity on these relationships has the huge potential of achieving optimal quality use of drugs as well as improving the efficacy and safety of antilipidemic therapeutic agents.

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“…and Allabi et al . The allele frequency of CYP2C9*8 is ∼0% in white patients and 4.70% in African American patients . As a result of the low allele frequency, this difference in allele classification does not seem to have clinical consequences for white patients.…”

Section: Methodology Of Dpwgmentioning

confidence: 95%

“…39 The CPIC categorizes the same allele as a "possible decreased function" allele based on two more recent reports by Liu et al 40 and Allabi et al 41 The allele frequency of CYP2C9*8 is 0% in white patients and 4.70% in African American patients. 42,43 As a result of the low allele frequency, this difference in allele classification does not seem to have clinical consequences for white patients. However, in African American patients, this difference could result in different therapeutic recommendations.…”

Section: Cyp2c9mentioning

confidence: 99%

Comparison of the Guidelines of the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group

Bank¹,

Caudle

Swen³

et al. 2017

Clin Pharma and Therapeutics

200

183

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Both the Clinical Pharmacogenetics Implementation Consortium (CPIC) and Dutch Pharmacogenetics Working Group provide therapeutic recommendations for well-known gene-drug pairs. Published recommendations show a high rate of concordance. However, as a result of different guideline development methods used by these two consortia, differences between the published guidelines exist. The aim of this paper is to compare both initiatives and explore these differences, with the objective to achieve harmonization.

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Worldwide interethnic variability and geographical distribution of CYP2C9 genotypes and phenotypes

Cited by 49 publications

References 110 publications

The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review

The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review

Ethnicity and Response to Drug Therapy

Comparison of the Guidelines of the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group

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