Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay

Bailliet, Graciela; Santos, Maria Rita de Morais Chaves; Alfaro, Emma; Dipierri, José Edgardo; Demarchi, Darío Alfredo; Carnese, Francisco R.; Bianchi, Néstor O.

doi:10.1016/j.mrgentox.2006.11.005

Cited by 24 publications

(28 citation statements)

References 26 publications

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“…Considering the ethnicity of the analyzed populations, the frequency of UMs in the mestizo group (10.1%) is similar to those reported in a Spanish population (6.1%) (Peñas-Lledó et al, 2012), those of a Mexican admixed population (9.1%) (López, Guerrero, Jung-Cook, & Alonso, 2005), and it is lightly greater than the percentage of UMs determined with debrisoquine in a Spanish population (5.2%, p=0.053) ). Moreover, the high frequency of PMs in the Costa Rican Amerindian population (10.2%) is similar to that reported in an Amerindian population from Argentina and Paraguay (12.8%) (Bailliet et al, 2007). Despite the small number of individuals in the Afro-Caribbean group, the frequencies of PMs and UMs are comparable to those of Brazilian populations with African ancestry (Kohlrausch et al, 2009;Silveira, Canalle, Scrideli, Queiroz, & Tone, 2009).…”

Section: Discussionsupporting

confidence: 81%

“…The high frequency of PMs in the Amerindian group can mainly be accounted for by the presence of the null allele CYP2D6*4 in this population (22.6%) at a frequency similar to those found in Amerindian populations of Argentina-Paraguay (17.8%) (Bailliet et al, 2007). However, it is higher than those reported in Panamanian Embera (14%) and Ngwabe (17.1%) populations (p<0.05) (Jorge, Eichelbaum, Griese, Inaba, & Arias, 1999).…”

Section: Discussionsupporting

confidence: 67%

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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: Discussionsupporting

confidence: 81%

Section: Discussionsupporting

confidence: 67%

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Céspedes-Garro

Jiménez-Arce

Naranjo

et al. 2014

RBT

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“…However, there were observed differences in other NAT-2 alleles between the Argentineans and Brazilians that could be explained by the African influence in Brazil. Nevertheless, it is worth noting that the sample size used in another study of the native populations of South America was too small for the study of polymorphisms; however, it is the only current source of reported data [7].…”

Section: Resultsmentioning

confidence: 99%

“…The major alleles groups associated with decreased enzyme activity due to amino acid changes and, therefore, a slow acetylator phenotype, are NAT-2*5, NAT-2*6, NAT-2*7 and NAT-2*14 [4]; in several surveys homozygous wild type alleles at all four loci that have no variations are called RA and are represented as NAT-2*4 [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

The distribution of allelic and genotypic frequencies of N-Acetyltransferase-2 variants in an Argentine population

Chamorro

Castagnino

Musella

et al. 2012

J Infect Dev Ctries

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Introduction: Arylamine N-acetyltransferase-2 (NAT-2) is a key human enzyme in drug detoxification and elimination. Mutations in NAT-2 affect the activity of anti-tuberculosis drugs and result in three different phenotypes: rapid (RA), intermediate (IA) and slow acetylators (SA). Methodology: The allelic, genotypic and phenotypic frequencies of NAT-2 were studied in 185 patients from Buenos Aires by restriction fragment length polymorphism. Results: The following allele frequencies were obtained: *4 = 29.9%, *5 = 37.0, *6 = 25.6%, *7 = 8% and *14 = 1.3%. With regard to the phenotype, we observed that 53.6% of the population was SA, 35.7% was IA and 10.7% was RA. Conclusion: A high prevalence of SA might have an impact on anti-TB drug-induced hepatotoxicity.

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“…This enzyme has a polymorphic form with a deficient activity and is unevenly distributed among ethnic groups, particularly in South American populations (22)(23)(24)(25). This variant is present in approximately 50% of Caucasian populations and 31% of Japanese individuals (25).…”

Section: Introductionmentioning

confidence: 99%

Oral cancer susceptibility associated with the CYP1A1 and GSTM1 genotypes in Chilean individuals

Cordero

Espinoza²,

Cáceres³

et al. 2010

Oncology Letters

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Abstract. Polycyclic aromatic hydrocarbons (PAHs) contained in tobacco smoke acquire carcinogenicity following their activation by xenobiotic-metabolizing enzymes to highly reactive metabolites. The cytochrome P4501A1 (CYP1A1) enzyme is central to the metabolic activation of these PAHs, and GSTM1 is the main enzyme responsible for its detoxification. CYP1A1 and GSTM1 polymorphisms were evaluated in 124 Chilean healthy controls and 48 oral cancer patients through PCR-based restriction fragment length polymorphism. In the healthy controls, frequencies of the CYP1A1 variant alleles for m1 (CYP1A1 * 2A) and the GSTM1null genotype were found to be 0.25 and 0.19, respectively. In the oral cancer patients, these frequencies were 0.33 and 0.50, respectively. Thus, the GSTM1 and m1 rare alleles were significantly more frequent in the oral cancer patients compared to the controls. The estimated relative risk for oral cancer associated with the single genotype CYP1A1 or GSTM1 was 2.08 for wt/m1, 1.04 for m1/m1 and 4.16 for the GSTM1null genotype. For smokers, the estimated relative risk (adjusted by age and gender) was higher in the individuals carrying the m1 allele of CYP1A1 [wt/m1: odds ratio (OR)=5.68, P=0.0080; m1/m1: OR=7.77, P=0.0420] or GSTM1null genotype (OR=20.81, P<0.0001). Combined genotypes CYP1A1 and GSTM1 increased the risk significantly (wt/m1/GSTM1null: OR=19.14, P=0.0030; m1/ m1/GSTM1null: OR=21.39, P=0.0130). Taken together, these findings suggest that Chilean individuals carrying single or combined GSTM1 and CYP1A1 polymorphisms may be more susceptible to oral cancer induced by environmental tobacco smoking.

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Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay

Cited by 24 publications

References 26 publications

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

The distribution of allelic and genotypic frequencies of N-Acetyltransferase-2 variants in an Argentine population

Oral cancer susceptibility associated with the CYP1A1 and GSTM1 genotypes in Chilean individuals

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