Family-based transmission analysis of HLA genetic markers in Sardinian children with autistic spectrum disorders

Franca R. Guerini, Elisabetta Bolognesi, Salvatorica Manca, Stefano Sotgiu, Milena Zanzottera, Cristina Agliardi, Sonia Usai, Mario Clerici

Research output: Contribution to journalArticlepeer-review


Analyses of a 6-Mb region spanning the human leukocyte antigen (HLA) region from the HLA-DR to the HFE gene were performed in 37 families of Sardinian ancestry, all of whom had at least one autistic child, to identify genetic markers associated with autism spectrum disorders (ASD) development. In particular, four microsatellites (MIB, D6S265, MOGc, and D6S2239) and three single-nucleotide polymorphisms (SNPs; two in positions -308 and -238 in the promoter of the TNF-α and SNP rs2857766 [V142L] in exon 3 of the MOG gene) were analyzed. An intrafamilial case-control method (affected family-based controls) and transmission disequilibrium test analysis were used to evaluate the association of microsatellite and SNP markers with ASD-affected children. Results indicated positive associations with ASD for D6S265*220 (p <0.01) and MOGc*131 (p <0.05) and negative associations for MOGc*117 and MIB*346 alleles (p <0.01) in ASD children. Polymorphism haplotype analysis indicated that D6S265 allele *220 and MOGc allele *131 were significantly more likely to be transmitted together, as a whole haplotype, to ASD children (p <0.05). Conversely, the D6S265*224-MOGc*117-rs2857766(G) haplotype was significantly less frequently transmitted to ASD children (p <0.01). The results present novel gene markers, reinforcing the hypothesis that genetic factors play a pivotal role in the pathogenesis of ASD.

Original languageEnglish
Pages (from-to)184-190
Number of pages7
JournalHuman Immunology
Issue number3
Publication statusPublished - Mar 2009


  • Autistic spectrum disorder
  • Family-based study
  • MHC
  • Microsatellite
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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