Variación de alelos del Gen receptor de Dopamina DRD4 en escolares chilenos de diferente origen étinico y su relación con riesgo de déficit atencional/hiperactividad.

Author
Rothhammer, Paula; Departamento de Psiquiatría, Escuela de Medicina Pontificia Universidad Católica de Chile

Lagos, Liza Paz; Instituto de Alta Investigación, Universidad de Tarapacá Arica, Chile.

Espinosa-Parrilla, Yolanda; Instituto de Alta Investigación, Universidad de Tarapacá Arica, Chile.Institut de Biologia Evolutiva (UPF-CSIC), CEXS-UPF-PRBB, Barcelona, Catalunya, Spain

Aboitiz, Francisco; Departamento de Psiquiatría, Escuela de Medicina Pontificia Universidad Católica de Chile

Rothhammer, Francisco; Instituto de Alta Investigación, Universidad de Tarapacá Arica, Chile.Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile.Centro de Investigaciones del Hombre en el Desierto.

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http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/1927
Abstract
DRD4 DOPAMINE RECEPTOR ALLELES IN CHILEAN STUDENTS OF DIFFERENT ETHNIC ORIGIN AND ITS RELATION WITH THE RISK FOR ATTENTION DEFICIT /HYPERACTIVITY DISORDER. Background: Worldwide diversity of alleles of D4 receptor gene (DRD4), linked to attention deficit hyperactivity disorder (ADHD), is mostly the result of length and single nucleotide polymorphisms in a 48-bp tandem repeat (VNTR). Alleles containing from two (2R) to eleven (11R) repeats have been identified. The most common are 4R, 7R and 2R. Aim: To study the association of ADHD risk with DRD4 genotypes in Chilean students. Subjects and methods: ADHD risk data were obtained through the abbreviated Conner’s Scale for School Teachers in  66 Aymara children (11 cases and 55 controls), 91 Rapa-Nui children (60 cases ad 31 controls) and 96 children from a mixed urban population from Santiago (51 cases and 45 controls). DNA extracted from saliva was amplified by polymerase chain reaction (PCR) to genotype the DRD4 VNTR. Results: The distribution of DRD4 alleles reveals that, beneath the 4R allele, 7R exhibits the second highest frequencies in Aymara and Santiago children. In Polynesian children, 2R ranks after 4R. A statistically significant association between ADHD risk and 2R/4R genotype was identified  in Polynesian children (p< 0.05; odds ratio =3.7). Conclusions: Different  DRD4 genotypes are associated with ADHD phenotype in Chilean populations, probably as a consequence of their initial colonization history. 
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