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Autism: evidence of association with adenosine deaminase genetic polymorphism

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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.

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Authors and Affiliations

  1. Department of Internal Medicine, "Tor Vergata" University of Rome, Rome, Italy, Italy

    Nunzio Bottini

  2. "Anni Verdi" Research Centre for Autism, Rome, Italy

    Danila De Luca

  3. Centre for Evolutionary Genetics, National Research Council, Rome, Italy

    Patrizia Saccucci & Paola Lucarelli

  4. Department of Pediatrics, University of Catania, Catania, Italy, Italy

    Agata Fiumara

  5. Department of Neurology, IRCCS Troina, Troina, Italy, Italy

    Maurizio Elia

  6. Department of Neurosciences, "Tor Vergata" University of Rome, Rome, Italy, Italy

    Maria Cristina Porfirio & Paolo Curatolo

Authors
  1. Nunzio Bottini
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  2. Danila De Luca
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  3. Patrizia Saccucci
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  4. Agata Fiumara
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  5. Maurizio Elia
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  6. Maria Cristina Porfirio
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  7. Paola Lucarelli
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  8. Paolo Curatolo
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Bottini, N., De Luca, D., Saccucci, P. et al. Autism: evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics 3, 111–113 (2001). https://doi.org/10.1007/s100480000104

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  • DOI: https://doi.org/10.1007/s100480000104

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