The STR polymorphism (AAAAT)n within the intron 1 of the tumor protein 53 (TP53) locus in 17 populations of different ethnic groups of Africa, America, Asia and Europe

Azofeifa, Jorge; Hahn, Meinhard; Ruiz, Edward; Hummerich, Lars; Morales, Ana Isabel; Jiménez, Gerardo; Barrantes, Ramiro

doi:10.15517/rbt.v1i2.15352

Cited by 5 publications

(3 citation statements)

References 34 publications

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“…The samples were collected and stored after approval from review boards of the University of Costa Rica, and have been widely studied (Azofeifa et al, 2004;Barrantes et al, 1990;Barrantes, Smouse, Neel, Mohrenweiser, & Gershowitz, 1982;Barrantes, 1993aBarrantes, , 1993bMorera, Barrantes, & Marin-Rojas, 2003;Morera & Barrantes, 2004;Reich et al, 2012;Santos, Ward, & Barrantes, 1994;Thompson, Neel, Smouse, & Barrantes, 1992;Wang et al, 2007Wang et al, , 2008. All the samples were already classified according to the ethnic origin and previous studies (see inclusion criteria), codified, and stored with an ID.…”

Section: Subjectsmentioning

confidence: 99%

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: Subjectsmentioning

confidence: 99%

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Céspedes-Garro

Jiménez-Arce

Naranjo

et al. 2014

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“…None of the remaining genetic markers evaluated were associated alone with the risk of MI. There are several explanations for these results: First-could be attributing to the population-specific factors, the low frequency of some of this polymorphism in the CR population (i.e., documented differences in the geographic distribution of carriers of this polymorphism (Herrmann et al 2001) and other polymorphisms (Azofeifa et al 2004, Chaves-Villalobos et al 2004, Morera et al 2001, 2003. Second-previous studies presented conflicting results in the association of some of the analyzed markers as risk factor for MI (i.e., FVL, MTHFR, ACE and FII G20210A (Doggen et al 1998, Ardissino et al 1999, Kang et al 1991, Frosst et al 1995, Cambien et al 1992.…”

Section: Discussionmentioning

confidence: 99%

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica

Salazar‐Sánchez

Chaves²,

Cartín

et al. 2014

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Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), factor V HR2 (FVHR2), factor II 20210G>A (FII), factor VII IVS7 (FVII IVS7), factor VII Arg353Gln (FVII), factor XIII Val34Leu (FXIII), Methylenetetrahydrofolate reductase C677T (MTHFR), Angiotensin Converting Enzyme (ACE)) and environmental risk factors were analyzed in a MI patients of Costa Rica. This case-control study included 186 MI subjects, 95 of them < 45 years and 201 age and sex matched controls. With the use of PCR method the polymorphisms were detected and through interviews additional information was collected. Hypercholesterolemia and smoking were associated with a significant risk in younger patients. High fibrinogen level was an important risk factor and interaction with smoking was detected. Mainly, the genotype 34LeuLeu of FXIII showed significant protective effect, (OR 0.32, 95%CI 0.13-0.80) while the other polymorphisms showed no significant difference between the cases and the controls. Carriers of FVII (OR 2.75, 95%CI 1.07-7.02) and FXIII (OR 4.20, 95%CI 2.03-8.67) polymorphisms showed interaction with fibrinogen in the statistical analysis. It was concluded that there was an important interaction between the common risk factors and the polymorphisms (FVII; FXIII) in the development of MI. This is one of the first reports in a Latin-American population dealing with these molecular markers and MI.

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“…The samples were collected and stored after approval from review boards of the University of Costa Rica. Further information of collection and demographic data is available elsewhere (Azofeifa et al, 2004;Barrantes et al, 1990;Barrantes, Smouse, Neel, Mohrenweiser, & Gershowitz, 1982). The inclusion criteria of individuals in each group were previously defined (Céspedes-Garro et al, 2014a).…”

Section: Subjectsmentioning

confidence: 99%

Relevance of the ancestry for the variability of the Drug-Metabolizing Enzymes CYP2C9, CYP2C19 and CYP2D6 polymorphisms in a multiethnic Costa Rican population

Céspedes-Garro¹,

Rodrigues‐Soares

Jiménez-Arce

et al. 2016

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CYP2C9, CYP2C19 and CYP2D6 metabolize around 40% of drugs and their genes vary across populations. The Costa Rican population has a trihybrid ancestry and its key geographic location turns it into a suitable scenario to evaluate interethnic differences across populations. This study aims to describe the diversity of CYP2C9, CYP2C19 and CYP2D6 polymorphisms in Costa Rican populations in the context of their ancestry. A total of 448 healthy individuals were included in the study: Bribri (n= 47), Cabécar (n= 27), Maleku (n= 16), Guaymí (n= 30), Huetar (n= 48), Chorotega (n= 41), Admixed/Mestizos from the Central Valley/Guanacaste (n= 189), and Afro-Caribbeans (n= 50) from Limón. CYP2C9 (alleles *2, *3, *6) and CYP2C19 (*2, *3, *4, *5, *17) genotypes were determined by Real-Time PCR. African, European and Native American ancestry were inferred using 87 ancestry informative markers. The frequency of the decreased activity allele CYP2C9*2 is lower in the self-reported Amerindian groups compared to the admixed population, and the highest frequencies of CYP2C19*2 (null activity) and the CYP2C19*17 (increased activity) were found in the self-reported Afro-Caribbean population. Moreover, a frequency of 0.7 % CYP2C9 gPMs in the Admixed population and a variable frequency of CYP2C19 gUMs (0.0-32.6 %, more prevalent in Afro-Caribbeans) in Costa Rican populations, was found. Finally, the following alleles were positively correlated with genomic African ancestry and negatively correlated with genomic Native American ancestry: CYP2D6*5 (null activity), CYP2D6*17 (decreased activity), CYP2D6*29 (decreased activity) and CYP2C19*17 (increased activity). No correlation for CYP2C9 polymorphisms and genomic ancestry was found. Further studies assessing the CYP2C9 and CYP2C19 sequence in these populations, preferentially by sequencing these genes, are warranted.

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The STR polymorphism (AAAAT)n within the intron 1 of the tumor protein 53 (TP53) locus in 17 populations of different ethnic groups of Africa, America, Asia and Europe

Cited by 5 publications

References 34 publications

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica

Relevance of the ancestry for the variability of the Drug-Metabolizing Enzymes CYP2C9, CYP2C19 and CYP2D6 polymorphisms in a multiethnic Costa Rican population

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