Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Céspedes-Garro, Carolina; Jiménez-Arce, Gerardo; Naranjo, María-Eugenia G; Barrantes, Ramiro; LLerena, Adrián; institucional, Autor

doi:10.15517/rbt.v62i4.12916

Cited by 16 publications

(16 citation statements)

References 46 publications

(47 reference statements)

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“…Another study conducted in Costa Rica analyzed three different ethnic groups: Mestizo, Amerindian, and Afro‐Caribbean, and demonstrated that a greater proportion of the Afro‐Caribbean group (18.4%) had *17 . The Mestizo and Amerindian populations also had *17 but to a lesser extent (1.8% and 2.2% respectively) (Céspedes‐Garro, ).…”

Section: Discussionmentioning

confidence: 99%

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population

Salyakina

Roy

Wang

et al. 2019

Molec Gen & Gen Med

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Background This study focuses on the implementation of CYP2D6 genetic test profiling and the challenges associated with using standard pharmacogenetics panels in a diverse South Florida population. Methods A total of 413 participants were recruited to participate in this study through Nicklaus Children's Hospital. Buccal swabs were collected and tested using an extended CYP2D6 panel including 22 alleles. Phenotype, genotype, and allelic frequencies were compared among different racial and ethnic groups. Results The majority of participants (75.0%) self‐identified as Hispanics. Four alleles, CYP2D6*4, *17, *41, and *2A, showed a statistically significant difference between White Hispanics and Black Non‐Hispanics. Aggregate frequency of all alleles with decreased function varied between 2.8% and 50.0% in different racial and ethnic groups. Additionally, rare allele combinations were observed in this South Florida cohort. Conclusions The heterogeneity among Hispanic groups demonstrated in previous literature and by this study reflects the complexity of ethnicity and suggests that a more granular categorization is needed, one based on ancestry and migration history rather than primary language. Overall, we have determined that there are statistically significant differences in CYP2D6 allele frequencies in the distinct racial and ethnic populations of South Florida, demonstrating a unique genetic makeup within South Florida. However, overall, the frequencies of Poor Metabolizer, Normal Metabolizer, Intermediate Metabolizer, and Ultrarapid Metabolizer did not differ between racial and ethnic groups at a statistically significant level.

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Section: Discussionmentioning

confidence: 99%

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population

Salyakina

Roy

Wang

et al. 2019

Molec Gen & Gen Med

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“…In Mexico, differences have been observed in CYP2D6*4 between Caucasians and Mexican Americans [135], while in Israel such variation in CYP2D6*4, *10 and *17 alleles and CYP2D6 duplications have been described between the Ethiopian, Sephardic Beduoin and Yemente Jews [136]. Prevalence of CYP2D6 UM in the Mediterranean population was higher than those from North Europe [137], in the Mestizo than in Amerindian and Afro-Caribbean population in a Costa Rican study [138] and in the Mediterranean compared to Northern Europe in an Italian study [139]. Similarly, differences exist in the prevalence of defective alleles between Africans and South-East Asians [140] and Hispanics, North American Caucasians and African Americans [141] and between African Americans and Caucasians [142].…”

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

confidence: 93%

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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“…The IM profile is the second most frequent (19%) in the Amerindian populations included in the present review. The highest frequency of the IM profile was recorded in Mexico (22%) [23][24][25][26][27][28][29][30], followed by Costa Rica (18%) [30,31], Chile (15%) [35], Venezuela (14%) [33], Peru (13%) [30], the US (3%) [32], and Argentina/Paraguay (1%) [34] (see Figure 2).…”

Section: Intermediate Metabolizersmentioning

confidence: 99%

“…The poor metabolizer (PM) profile is the result of the combination of two alleles that have a complete loss of function (no enzymatic activity), that is, null alleles due to mutations or the deletion of the gene [8,41]. The highest frequency of PM (30%) was recorded in Costa Rica [30,31], followed by Argentina/Paraguay, with 13% [34], and Venezuela [33] and the US [32], each with 6% ( Figure 2). The PM profile typically results in low levels of active metabolites of some medications, such as opioid analgesics, resulting in the reduced effectiveness of pain relief [42,43].…”

Section: Poor Metabolizersmentioning

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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Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Cited by 16 publications

References 46 publications

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population

Ethnicity and Response to Drug Therapy

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

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