PMID- 16698432 OWN - NLM STAT- MEDLINE DCOM- 20060829 LR - 20211203 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 67 IP - 1-2 DP - 2006 Jan-Feb TI - A family based linkage analysis of HLA and 5-HTTLPR gene polymorphisms in Sardinian children with autism spectrum disorder. PG - 108-17 AB - 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. FAU - Guerini, Franca R AU - Guerini FR AD - Laboratory of Molecular Medicine and Biotechnologies, Don C. Gnocchi Foundation IRCCS, S. Maria Nascente, Milan, Italy. FAU - Manca, Salvatorica AU - Manca S FAU - Sotgiu, Stefano AU - Sotgiu S FAU - Tremolada, Sara AU - Tremolada S FAU - Zanzottera, Milena AU - Zanzottera M FAU - Agliardi, Cristina AU - Agliardi C FAU - Zanetta, Lorenzo AU - Zanetta L FAU - Saresella, Marina AU - Saresella M FAU - Mancuso, Roberta AU - Mancuso R FAU - De Silvestri, Annalisa AU - De Silvestri A FAU - Fois, Maria Laura AU - Fois ML FAU - Arru, Giannina AU - Arru G FAU - Ferrante, Pasquale AU - Ferrante P LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20060406 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (SLC6A4 protein, human) RN - 0 (Serotonin Plasma Membrane Transport Proteins) SB - IM MH - Adolescent MH - Autistic Disorder/*epidemiology/*genetics MH - Child MH - Child, Preschool MH - Ethnicity/*genetics MH - Female MH - Genetic Linkage MH - HLA-DR Antigens/*genetics MH - HLA-DRB1 Chains MH - Humans MH - Italy/epidemiology/ethnology MH - Male MH - Molecular Epidemiology MH - *Polymorphism, Genetic MH - Serotonin Plasma Membrane Transport Proteins/*genetics EDAT- 2006/05/16 09:00 MHDA- 2006/08/30 09:00 CRDT- 2006/05/16 09:00 PHST- 2005/12/01 00:00 [received] PHST- 2006/05/16 09:00 [pubmed] PHST- 2006/08/30 09:00 [medline] PHST- 2006/05/16 09:00 [entrez] AID - S0198-8859(06)00018-8 [pii] AID - 10.1016/j.humimm.2006.02.033 [doi] PST - ppublish SO - Hum Immunol. 2006 Jan-Feb;67(1-2):108-17. doi: 10.1016/j.humimm.2006.02.033. Epub 2006 Apr 6.