Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional / Combination of DRD4 and DAT1 genotypes is an important risk factor for attention déficit disorder with hyperactivity families living in Santiago, Chile
Rev. méd. Chile
; 136(6): 719-724, jun. 2008. ilus, tab
Article
em Es
| LILACS
| ID: lil-490756
Biblioteca responsável:
BR1.1
ABSTRACT
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 andmethods:
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 percent) in cases (40), compared with (2.8 percent) 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.Palavras-chave
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Índice:
LILACS
Assunto principal:
Polimorfismo Genético
/
Transtorno do Deficit de Atenção com Hiperatividade
/
Família
/
Proteínas da Membrana Plasmática de Transporte de Dopamina
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2008
Tipo de documento:
Article
/
Project document