Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí

Background: There are significant differences in drug responses among different ethnic groups. The multidrug transporter P-gp, encoded by the MDR1 gene, plays a key role in determining drug bioavailability, and an association between a polymorphism in exon 26 (C3435T) and lower P-gp expression has b...

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Autores principales:	Wielandt N,Ana María, Vollrath R,Valeska, Chianale B,José
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Ethnic groups Genes MDR Oceanic ancestry group Polymorphism (Genetics) South American native continental ancestry group
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900006
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spelling	oai:scielo:S0034-988720040009000062005-11-22Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maoríWielandt N,Ana MaríaVollrath R,ValeskaChianale B,José Ethnic groups Genes MDR Oceanic ancestry group Polymorphism (Genetics) South American native continental ancestry group Background: There are significant differences in drug responses among different ethnic groups. The multidrug transporter P-gp, encoded by the MDR1 gene, plays a key role in determining drug bioavailability, and an association between a polymorphism in exon 26 (C3435T) and lower P-gp expression has been found. The co-segregation of this polymorphism with the polymorphism in exon 12 (C1236T) and in exon 21 (G2677T/A) determines several MDR1 haplotypes in humans. Aim: To characterize the polymorphisms of exons 26, 21 and 12 of the MDR1 gene in different Chilean populations. Material and methods: Using a polymerase chain reaction and restriction fragment length polymorphism technique, we studied the allelic frequencies and the distribution of MDR1 haplotypes in 3 Chilean populations: Mestizo (n=104), Mapuche (n=96, living in the National Reservation of the Huapi Island, Ranco Lake) and Maori (n=52, living in Eastern Island). Results: The frequency of the normal MDR11 haplotype, without mutations, was lower in Mapuches than in Mestizos or Maoris (p <0.005) but similar to that reported in Asian population (p=0.739), probably due to the Asian origin of the Amerindian populations. In addition, the MDR1l haplotype frequency in Mestizos was similar to the frequency reported in Caucasians (p=0.49), in agreement with the origin of our population, with a strong influence of Caucasian genes from the Spanish conquerors. The MDR1*2 haplotype distribution, with the three polymorphisms and probably lower multidrug transporter expression, was similar in the three Chilean populations studied (p >0.05), but lower than the frequencies reported in Caucasians or Asians (p <0.05). Conclusions: We found significant differences in the frequencies of genetic polymorphisms of the MDR1 gene in Chilean populations, related to the ethnic origins of our ancestors (Rev Méd Chile 2004; 132: 1061-8info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.9 20042004-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900006es10.4067/S0034-98872004000900006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Ethnic groups Genes MDR Oceanic ancestry group Polymorphism (Genetics) South American native continental ancestry group
spellingShingle	Ethnic groups Genes MDR Oceanic ancestry group Polymorphism (Genetics) South American native continental ancestry group Wielandt N,Ana María Vollrath R,Valeska Chianale B,José Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
description	Background: There are significant differences in drug responses among different ethnic groups. The multidrug transporter P-gp, encoded by the MDR1 gene, plays a key role in determining drug bioavailability, and an association between a polymorphism in exon 26 (C3435T) and lower P-gp expression has been found. The co-segregation of this polymorphism with the polymorphism in exon 12 (C1236T) and in exon 21 (G2677T/A) determines several MDR1 haplotypes in humans. Aim: To characterize the polymorphisms of exons 26, 21 and 12 of the MDR1 gene in different Chilean populations. Material and methods: Using a polymerase chain reaction and restriction fragment length polymorphism technique, we studied the allelic frequencies and the distribution of MDR1 haplotypes in 3 Chilean populations: Mestizo (n=104), Mapuche (n=96, living in the National Reservation of the Huapi Island, Ranco Lake) and Maori (n=52, living in Eastern Island). Results: The frequency of the normal MDR11 haplotype, without mutations, was lower in Mapuches than in Mestizos or Maoris (p <0.005) but similar to that reported in Asian population (p=0.739), probably due to the Asian origin of the Amerindian populations. In addition, the MDR1l haplotype frequency in Mestizos was similar to the frequency reported in Caucasians (p=0.49), in agreement with the origin of our population, with a strong influence of Caucasian genes from the Spanish conquerors. The MDR1*2 haplotype distribution, with the three polymorphisms and probably lower multidrug transporter expression, was similar in the three Chilean populations studied (p >0.05), but lower than the frequencies reported in Caucasians or Asians (p <0.05). Conclusions: We found significant differences in the frequencies of genetic polymorphisms of the MDR1 gene in Chilean populations, related to the ethnic origins of our ancestors (Rev Méd Chile 2004; 132: 1061-8
author	Wielandt N,Ana María Vollrath R,Valeska Chianale B,José
author_facet	Wielandt N,Ana María Vollrath R,Valeska Chianale B,José
author_sort	Wielandt N,Ana María
title	Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
title_short	Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
title_full	Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
title_fullStr	Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
title_full_unstemmed	Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
title_sort	polimorfismos del gen de resistencia a múltiples drogas (mdr1) en poblaciones chilenas: mapuche, mestiza y maorí
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900006
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Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí

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