Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents

Abstract Background Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disorders, including those involving alterations in cognitive and emotion...

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Main Authors: Osmar Henrique Della Torre, Lúcia Arisaka Paes, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Eloisa Helena Rubello Valler Celeri, Paulo Dalgalarrondo, Gil Guerra-Júnior, Amilton dos Santos-Júnior
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
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Online Access:http://link.springer.com/article/10.1186/s12881-018-0586-9
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author Osmar Henrique Della Torre
Lúcia Arisaka Paes
Taciane Barbosa Henriques
Maricilda Palandi de Mello
Eloisa Helena Rubello Valler Celeri
Paulo Dalgalarrondo
Gil Guerra-Júnior
Amilton dos Santos-Júnior
author_facet Osmar Henrique Della Torre
Lúcia Arisaka Paes
Taciane Barbosa Henriques
Maricilda Palandi de Mello
Eloisa Helena Rubello Valler Celeri
Paulo Dalgalarrondo
Gil Guerra-Júnior
Amilton dos Santos-Júnior
author_sort Osmar Henrique Della Torre
collection DOAJ
description Abstract Background Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disorders, including those involving alterations in cognitive and emotional processes. Methods The aim of this study was to evaluate the association between the SNPs c.957C > T (rs6277) and c.-585A > G (rs1799978) in the DRD2 gene and behavioral characteristics of children and adolescents based on an inventory of the Child Behavior Checklist (CBCL). Children and adolescents between 8 and 20 years old who were clinically followed-up were genotyped for the SNPs c.957C > T and c.-585A > G, and related to data of the CBCL/6–18 scale assessment performed with the help of caregivers. The chi-squared test was used to assess the differences in the frequencies of the C and T alleles in the polymorphism c.957C > T and of the A and G alleles in the polymorphism c.-585A > G with respect to the grouped CBCL scores at a significance level of 5%. Multiple logistic regression models were performed, to control whether sex and/or ethnicity could influence the results. Results Eighty-five patients were assessed overall, and the presence of the T allele (C/T and T/T) of DRD2 c.957C > T polymorphism was found to be significantly associated with the occurrence of defiant and oppositional problems and with attention and hyperactivity problems. There were no associations detected with polymorphism DRD2 c.-585A > G polymorphism. Both SNPs were in Hardy-Weinberg-equilibrium. Conclusions Although the findings of this study are preliminary, due to its small number of participants, the presence of T allele (C/T, T/T) in c.957C > T SNP was associated with difficulty in impulse control, self-control of emotions, and conduct adjustment, which can contribute to improving the identification of mental and behavioral phenotypes associated with gene expression.
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spelling doaj.art-ae6c72ab21c34507900b829fd6dc665f2022-12-21T21:31:50ZengBMCBMC Medical Genetics1471-23502018-05-011911910.1186/s12881-018-0586-9Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescentsOsmar Henrique Della Torre0Lúcia Arisaka Paes1Taciane Barbosa Henriques2Maricilda Palandi de Mello3Eloisa Helena Rubello Valler Celeri4Paulo Dalgalarrondo5Gil Guerra-Júnior6Amilton dos Santos-Júnior7Department of Psychiatry - Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp)Department of Psychiatry - Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp)Laboratory of Human Genetics - Center for Molecular Biology and Genetic Engineering (CBMEG), UnicampLaboratory of Human Genetics - Center for Molecular Biology and Genetic Engineering (CBMEG), UnicampDepartment of Psychiatry - Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp)Department of Psychiatry - Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp)Growth and Development Laboratory - Center for Investigation in Pediatrics (CIPED), FCM – UnicampDepartment of Psychiatry - Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp)Abstract Background Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disorders, including those involving alterations in cognitive and emotional processes. Methods The aim of this study was to evaluate the association between the SNPs c.957C > T (rs6277) and c.-585A > G (rs1799978) in the DRD2 gene and behavioral characteristics of children and adolescents based on an inventory of the Child Behavior Checklist (CBCL). Children and adolescents between 8 and 20 years old who were clinically followed-up were genotyped for the SNPs c.957C > T and c.-585A > G, and related to data of the CBCL/6–18 scale assessment performed with the help of caregivers. The chi-squared test was used to assess the differences in the frequencies of the C and T alleles in the polymorphism c.957C > T and of the A and G alleles in the polymorphism c.-585A > G with respect to the grouped CBCL scores at a significance level of 5%. Multiple logistic regression models were performed, to control whether sex and/or ethnicity could influence the results. Results Eighty-five patients were assessed overall, and the presence of the T allele (C/T and T/T) of DRD2 c.957C > T polymorphism was found to be significantly associated with the occurrence of defiant and oppositional problems and with attention and hyperactivity problems. There were no associations detected with polymorphism DRD2 c.-585A > G polymorphism. Both SNPs were in Hardy-Weinberg-equilibrium. Conclusions Although the findings of this study are preliminary, due to its small number of participants, the presence of T allele (C/T, T/T) in c.957C > T SNP was associated with difficulty in impulse control, self-control of emotions, and conduct adjustment, which can contribute to improving the identification of mental and behavioral phenotypes associated with gene expression.http://link.springer.com/article/10.1186/s12881-018-0586-9Genetic polymorphismDopamineBehaviorc.957C > T polymorphismc.-585A > G polymorphism
spellingShingle Osmar Henrique Della Torre
Lúcia Arisaka Paes
Taciane Barbosa Henriques
Maricilda Palandi de Mello
Eloisa Helena Rubello Valler Celeri
Paulo Dalgalarrondo
Gil Guerra-Júnior
Amilton dos Santos-Júnior
Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
BMC Medical Genetics
Genetic polymorphism
Dopamine
Behavior
c.957C > T polymorphism
c.-585A > G polymorphism
title Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
title_full Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
title_fullStr Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
title_full_unstemmed Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
title_short Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
title_sort dopamine d2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
topic Genetic polymorphism
Dopamine
Behavior
c.957C > T polymorphism
c.-585A > G polymorphism
url http://link.springer.com/article/10.1186/s12881-018-0586-9
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