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

Guerini, Franca R. and Bolognesi, Elisabetta and Manca, Salvatorica and Sotgiu, Stefano and Zanzottera, Milena and Agliardi, Cristina and Usai, Sonia and Clerici, Mario (2009) Family-based transmission analysis of HLA genetic markers in Sardinian children with autistic spectrum disorders. Human Immunology, Vol. 70 (3), p. 184-190. ISSN 0198-8859. Article.

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DOI: 10.1016/j.humimm.2008.12.009


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.

Item Type:Article
ID Code:1951
Uncontrolled Keywords:Autistic spectrum disorder, family-based study, MHC, microsatellite, single nucleotide polymorphism
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:001 Università di Sassari > 03 Istituti > Neuropsichiatria infantile
001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Copyright Holders:© 2009 American Society for Histocompatibility and Immunogenetics
Deposited On:18 Aug 2009 10:06

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