Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional

Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness. Aún: To search forpossible associations between dopamine receptor D4 (DRD4) and dopamine trans...

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Autores principales:	Henríquez B,Hugo, Henríquez H,Marcela, Carrasco Ch,Ximena, Rothhammer A,Paula, Llop R,Elena, Aboitiz,Francisco, Rothhammer E,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2008
Materias:	Attention deficit disorder with hyperactivity DATl protein DRD4 protein, human
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000600005
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spelling	oai:scielo:S0034-988720080006000052008-08-26Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencionalHenríquez B,HugoHenríquez H,MarcelaCarrasco Ch,XimenaRothhammer A,PaulaLlop R,ElenaAboitiz,FranciscoRothhammer E,Francisco Attention deficit disorder with hyperactivity DATl protein DRD4 protein, human Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness. Aún: To search forpossible associations between dopamine receptor D4 (DRD4) and dopamine transponer 1 (DATl) polymorphisms and ADHD in Chilean families. Material and methods: We extended a previous family-based discordant sib pair analysis that included 26 cases diagnosed according to DSM-IV entena and 25 controls (healthy siblings of cases), adding 14 cases and 11 controls. Results: Both loci, individually classified as homozygotes or heterozygotes for the DRD4 7-repeat and DATl 10-repeat alleles, did not exhibit genotype frequency differences between affected children and their healthy siblings. However, the simultaneous presence of both DRD4 7-repeat heterozygosity and DATl 10 allele homozygosity was significantly higher (22.5%) in cases (40), compared with (2.8%) unaffected siblings (36), with an odds-ratio of 10.16. Conclusions: The genotype combination DRD4/7 heterozygotes and DAT1/10 homozygotes is a high risk factors in Chilean families for ADHD. Increased density of dopamine transporters in ADHD brains, along with abundance of 7-repeat D4 receptors in prefrontal cortex, which is impaired in ADHD patients, make the observed gene-gene interaction worthy of studies to understand the functional basis ofADHDinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.136 n.6 20082008-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000600005es10.4067/S0034-98872008000600005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Attention deficit disorder with hyperactivity DATl protein DRD4 protein, human
spellingShingle	Attention deficit disorder with hyperactivity DATl protein DRD4 protein, human Henríquez B,Hugo Henríquez H,Marcela Carrasco Ch,Ximena Rothhammer A,Paula Llop R,Elena Aboitiz,Francisco Rothhammer E,Francisco Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional
description	Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness. Aún: To search forpossible associations between dopamine receptor D4 (DRD4) and dopamine transponer 1 (DATl) polymorphisms and ADHD in Chilean families. Material and methods: We extended a previous family-based discordant sib pair analysis that included 26 cases diagnosed according to DSM-IV entena and 25 controls (healthy siblings of cases), adding 14 cases and 11 controls. Results: Both loci, individually classified as homozygotes or heterozygotes for the DRD4 7-repeat and DATl 10-repeat alleles, did not exhibit genotype frequency differences between affected children and their healthy siblings. However, the simultaneous presence of both DRD4 7-repeat heterozygosity and DATl 10 allele homozygosity was significantly higher (22.5%) in cases (40), compared with (2.8%) unaffected siblings (36), with an odds-ratio of 10.16. Conclusions: The genotype combination DRD4/7 heterozygotes and DAT1/10 homozygotes is a high risk factors in Chilean families for ADHD. Increased density of dopamine transporters in ADHD brains, along with abundance of 7-repeat D4 receptors in prefrontal cortex, which is impaired in ADHD patients, make the observed gene-gene interaction worthy of studies to understand the functional basis ofADHD
author	Henríquez B,Hugo Henríquez H,Marcela Carrasco Ch,Ximena Rothhammer A,Paula Llop R,Elena Aboitiz,Francisco Rothhammer E,Francisco
author_facet	Henríquez B,Hugo Henríquez H,Marcela Carrasco Ch,Ximena Rothhammer A,Paula Llop R,Elena Aboitiz,Francisco Rothhammer E,Francisco
author_sort	Henríquez B,Hugo
title	Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional
title_short	Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional
title_full	Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional
title_fullStr	Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional
title_full_unstemmed	Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional
title_sort	combinación de genotipos drd4 y dat1 constituye importante factor de riesgo en miembros de familias de santiago de chile con déficit atencional
publisher	Sociedad Médica de Santiago
publishDate	2008
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000600005
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Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional

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