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
in Spanish
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
Attention Deficit Disorder with Hyperactivity
/
Family
/
Dopamine Plasma Membrane Transport Proteins
Type of study:
Etiology study
/
Observational study
/
Risk factors
Limits:
Child
/
Humans
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2008
Type:
Article
/
Project document
Affiliation country:
Chile
Institution/Affiliation country:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Chile/CL
/
Universidad de Tarapacá/CL
Similar
MEDLINE
...
LILACS
LIS