title: A family based linkage analysis of HLA and 5-HTTLPR gene polymorphisms in Sardinian children with autism spectrum disorder.
abstract: Autism spectrum disorders (ASD) are characterized by a broad range in clinical presentation. Although a definite genetic cause has not yet been fully demonstrated, family based studies suggest that a multigenic pattern may be responsible for susceptibility, but most results are conflicting and have yet to be replicated. The purpose of this investigation was to analyze the linkage of the human leukocyte antigen (HLA) and the human serotonin transporter coding (5-HTTLPR) genes with ASD in a group of 37 families of Sardinian ethnicity in insular Italy. In 50% of these families, ASD is linked to HLA, and in the other 50% it is linked to 5-HTTLPR polymorphic genes; in other words, linkage to one or the other was evident in all cases. Despite a very homogenous genetic pattern being generally reported for Sardinians, the linkage observed with HLA and 5-HTTLPR genetic regions indicated a statistically defined heterogeneity (p=0.002). No allelic HLA or 5-HTTLPR polymorphisms were specifically associated with ASD, suggesting these loci as markers of other genes mapped in their close proximity that may be more directly involved and thus may merit further analytical studies.
authors.affiliation: Laboratory of Molecular Medicine and Biotechnologies, Don C. Gnocchi Foundation IRCCS, S. Maria Nascente, Milan, Italy.
authors.forename: Franca R
authors.initials: FR
authors.lastname: Guerini
authors.forename: Salvatorica
authors.initials: S
authors.lastname: Manca
authors.forename: Stefano
authors.initials: S
authors.lastname: Sotgiu
authors.forename: Sara
authors.initials: S
authors.lastname: Tremolada
authors.forename: Milena
authors.initials: M
authors.lastname: Zanzottera
authors.forename: Cristina
authors.initials: C
authors.lastname: Agliardi
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Zanetta
authors.forename: Marina
authors.initials: M
authors.lastname: Saresella
authors.forename: Roberta
authors.initials: R
authors.lastname: Mancuso
authors.forename: Annalisa
authors.initials: A
authors.lastname: De Silvestri
authors.forename: Maria Laura
authors.initials: ML
authors.lastname: Fois
authors.forename: Giannina
authors.initials: G
authors.lastname: Arru
authors.forename: Pasquale
authors.initials: P
authors.lastname: Ferrante
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007558:Italy / Q000453:epidemiology / Q000208:ethnology; D008297:Male; D017720:Molecular Epidemiology; D011110:Polymorphism, Genetic; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins