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.

Bottini, N., De Luca, D., Saccucci, P., Fiumara, A., Elia, M., Porfirio, M., et al. (2001). Autism: evidence of association with adenosine deaminase genetic polymorphism. NEUROGENETICS, 3(2), 111-113.

Autism: evidence of association with adenosine deaminase genetic polymorphism

BOTTINI, NUNZIO;SACCUCCI, PATRIZIA;CURATOLO, PAOLO
2001-03-01

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.
mar-2001
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/01 - STATISTICA MEDICA
English
Con Impact Factor ISI
Male; Adolescent; European Continental Ancestry Group; Alleles; Amino Acid Substitution; Female; Child, Preschool; Risk Factors; Italy; Genotype; Adenosine Deaminase; Humans; Polymorphism, Genetic; Aspartic Acid; Child; Asparagine; Autistic Disorder; Reference Values
Bottini, N., De Luca, D., Saccucci, P., Fiumara, A., Elia, M., Porfirio, M., et al. (2001). Autism: evidence of association with adenosine deaminase genetic polymorphism. NEUROGENETICS, 3(2), 111-113.
Bottini, N; De Luca, D; Saccucci, P; Fiumara, A; Elia, M; Porfirio, M; Lucarelli, P; Curatolo, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/16407
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