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
Artículo
en Español
| LILACS
| ID: lil-490756
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 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 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.
Texto completo:
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Índice:
LILACS (Américas)
Asunto principal:
Polimorfismo Genético
/
Trastorno por Déficit de Atención con Hiperactividad
/
Familia
/
Proteínas de Transporte de Dopamina a través de la Membrana Plasmática
Tipo de estudio:
Estudio de etiología
/
Estudio observacional
/
Factores de riesgo
Límite:
Niño
/
Humanos
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2008
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Chile
Institución/País de afiliación:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Chile/CL
/
Universidad de Tarapacá/CL
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