A Family Based Linkage Analysis of HLA and 5-HTTLPR Gene Polymorphisms in Sardinian Children with Autism Spectrum Disorder

Franca R. Guerini, Salvatorica Manca, Stefano Sotgiu, Sara Tremolada, Milena Zanzottera, Cristina Agliardi, Lorenzo Zanetta, Marina Saresella, Roberta Mancuso, Annalisa De Silvestri, Maria Laura Fois, Giannina Arru, Pasquale Ferrante

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)108-117
Number of pages10
JournalHuman Immunology
Volume67
Issue number1-2
DOIs
Publication statusPublished - Jan 2006

Keywords

  • Autism spectrum disorder
  • human leukocyte antigen
  • human serotonin transporter gene
  • linkage analysis

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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