To verify correlations between HLA and autism spectrum disorders (ASD) we studied 61 Italian families with an ASD child; results showed such correlation in 65% of cases. Case–control and TDT analysis of intrafamilial transmission of SNPs, Msats, and HLA markers surrounding the α and β blocks, indicated significant positive associations for MOGc*131 and D6S2239*105 alleles in ASD, and a negative association of MIB *332 allele in healthy siblings. Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB*332-HLA-B*38-HLA-Cw*12 and the D6S265*218-HLA-A*23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. MOGc and MIB loci are linked with ASD in Italian patients.

HLA polymorphisms in Italian children with autism spectrum disorders : results of a family based linkage study / F.R. Guerini, E. Bolognesi, M. Chiappedi, A. De Silvestri, A. Ghezzo, M. Zanette, B. Rusconi, S. Manca, S. Sotgiu, C. Agliardi, M.S. Clerici. - In: JOURNAL OF NEUROIMMUNOLOGY. - ISSN 0165-5728. - 230:1-2(2011 Jan), pp. 135-142. [10.1016/j.jneuroim.2010.10.019]

HLA polymorphisms in Italian children with autism spectrum disorders : results of a family based linkage study

C. Agliardi;M.S. Clerici
2011-01

Abstract

To verify correlations between HLA and autism spectrum disorders (ASD) we studied 61 Italian families with an ASD child; results showed such correlation in 65% of cases. Case–control and TDT analysis of intrafamilial transmission of SNPs, Msats, and HLA markers surrounding the α and β blocks, indicated significant positive associations for MOGc*131 and D6S2239*105 alleles in ASD, and a negative association of MIB *332 allele in healthy siblings. Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB*332-HLA-B*38-HLA-Cw*12 and the D6S265*218-HLA-A*23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. MOGc and MIB loci are linked with ASD in Italian patients.
autistic spectrum disorder ; family based study ; MHC ; microsatellite ; single nucleotide polymorphism
Settore MED/04 - Patologia Generale
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/152438
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