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Autism: evidence of association with adenosine deaminase genetic polymorphism |
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| Authors: | Nunzio Bottini Danila De Luca Patrizia Saccucci Agata Fiumara Maurizio Elia Maria Cristina Porfirio Paola Lucarelli Paolo Curatolo |
| Affiliation: | (1) Department of Internal Medicine, "Tor Vergata" University of Rome, Rome, Italy,;(2) "Anni Verdi" Research Centre for Autism, Rome,;(3) Centre for Evolutionary Genetics, National Research Council, Rome,;(4) Department of Pediatrics, University of Catania, Catania, Italy,;(5) Department of Neurology, IRCCS Troina, Troina, Italy,;(6) Department of Neurosciences, "Tor Vergata" University of Rome, Rome, Italy,;(7) Department of Neurosciences, Pediatric Neurology Unit, "Tor Vergata" University of Rome, Via di Tor Vergata, 135, 00133 Rome, Italy, |
| Abstract: | Reduced adenosine deaminase (ADA) activity has been reported in sera of autistic children relative to controls. Additionally, the Asn allele of the ADA Asp8Asn polymorphism has been associated with reduced enzymatic activity. Therefore, we studied this polymorphism in autistic children and controls from two Italian populations. We observed a significantly elevated frequency of the low-activity Asn allele in the total sample of autistic cases relative to controls (P<0.00001), and in both study populations (P<0.001 and P<0.025). We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism. Electronic Publication |
| Keywords: | Adenosine deaminase Autism Purine Genetics |
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