Abstract

Background: Several  studies  have  shown  a  genetic  role  in  the  pathogenesis  of   many  childhood  psychiatric  disorders.  The  most  common  childhood  psychiatric   disorder  is  the  attention  deficit  hyperactivity  disorder  (ADHD)  and  some  reports   showed  the  co-­occurance  in  ADHD  children  and  Autism  Spectrum  Disorders  (ASD).   Many  investigators  focused  their  attention  on  polymorphisms  affecting  gene  regions   coding  for  dopamine  receptors.  In  this  study  we  evaluate  the  association  of  three   single-­nucleotide  polymorphisms  (SNPs)  with  clinically  significant  level  of  autistic   symptoms  among  children  with  ADHD. Methods: We  enrolled  150  children  who   were  divided  into  four  groups:  children  with  ADHD,  children  with  ASD,  children  with   co-­occurance  of  ADHD/ASD,  and  control  subjects.  We  investigated  rs265975  C/T   (174862195C>T)  for  dopamine  receptor  D1  gene,  rs1076560  C/A  (113283688C>A)   and  rs1079597  G/A  (113296286C>T)  for  dopamine  receptor  D2  gene  utilizing   previous  DNA  extraction  and  amplification,  restriction  enzymes  that  recognized  one   of  two  allelic  variants. Results: Our  results  demonstrated  that  homozygosis  T/T  for   rs265975  had  a  lower  frequency  in  ADHD  patients  compared  to  other  groups,whereas  small  differences  were  seen  in  heterozygosis  C/T.  Both  heterozygosis  C/A   for  rs1076560  and  heterozygosis  G/A  for  rs1079597  showed  higher  frequency  in   ASD  group  with  respect  to  control  children  and  ADHD  patients,  whereas  in   ADHD/ASD  group  a  ratio  3:1  vs  unaffected  people  was  seen.  The  same  trend,  but   with  slight  differences,  was  observed  in  homozygosis  A/A  for  rs1076560  and   rs1079597. Conclusions: These  preliminary  data  pointing  to  differences  between   ADHD/ASD  and  other  groups  must  be  confirmed  and  encourage  us  to  enlarge  our   study  populations.

Autore Pugliese

• Margari Lucia , Mariggio' Maria Addolorata , Fumarulo Ruggiero

Tutti gli autori

• MARGARI L.;MARIGGIO' M.A.;FUMARULO R.

Titolo volume/Rivista

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Anno di pubblicazione

2012

ISSN

0002-9440

ISBN

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Numero di citazioni Wos

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Numero di citazioni Scopus

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Settori ERC

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Codici ASJC

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