title: Autism: evidence of association with adenosine deaminase genetic polymorphism.
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.
authors.affiliation: Department of Internal Medicine, Tor Vergata University of Rome, Rome, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Bottini
authors.forename: D
authors.initials: D
authors.lastname: De Luca
authors.forename: P
authors.initials: P
authors.lastname: Saccucci
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: M
authors.initials: M
authors.lastname: Elia
authors.forename: M C
authors.initials: MC
authors.lastname: Porfirio
authors.forename: P
authors.initials: P
authors.lastname: Lucarelli
authors.forename: P
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D000483:Alleles; D019943:Amino Acid Substitution; D001216:Asparagine; D001224:Aspartic Acid; D001321:Autistic Disorder / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D011110:Polymorphism, Genetic; D012016:Reference Values; D012307:Risk Factors; D044465:White People
chemical_list: D001224:Aspartic Acid; D001216:Asparagine; D000243:Adenosine Deaminase