HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study

Franca R. Guerini, Elisabetta Bolognesi, Stefano Sotgiu, Alessandra Carta, Claudia Clerici, Matteo Chiappedi, Alessandro Ghezzo, Michela Zanette, Maria M. Mensi, Maria P. Canevini, Milena Zanzottera, Cristina Agliardi, Andrea S. Costa, Umberto Balottin, Mario Clerici

Research output: Contribution to journalArticlepeer-review


Recent results show that in mainland Italian children with Autism spectrum disorder (ASD), HLA-G coding alleles distribution is skewed and an association between HLA-G*01:05N and ASD is present. Herein, in an independent cohort of Sardinian ASD (sASD) children and their relatives, we verify whether HLA-G allele association with ASD could be confirmed in this genetically peculiar insular population. One hundred children with a diagnosis of ASD, born in Sardinia and of Sardinian descent, 91 of their mothers, and 40 of their healthy siblings were enrolled. DNA sequencing analysis of HLA-G exon 2, 3 and 4 was used to obtain HLA-G allelic frequencies. Alleles distribution was compared with that of continental ASD children and with a control group of Caucasoid couples of multiparous women and their partners from Brazil and Denmark. Skewing of HLA-G allele distribution was replicated in sASD children; in particular, the HLA-G*01:03 allele, associated with reduced fetal tolerogenicity and development of myeloid leukemia, was more common in both ASD groups compared to controls (p c = 1 × 10 −3 ; OR:3.5, 95%CI: 1.8–6.8). However, given the lack of data on HLA-G*01:03 allelic distribution among Sardinian healthy subjects, we cannot exclude a population effect. These data confirm an association of HLA-G locus with ASD development, particularly with those alleles linked to a lower expression of tolerogenic HLA-G protein, thus warranting further studies on HLA-G polymorphism distribution in different ASD populations.

Original languageEnglish
JournalBrain, Behavior, and Immunity
Publication statusPublished - Jul 1 2019


  • Autistic spectrum disorder
  • Genetic polymorphism
  • HLA-G
  • Immune system
  • In utero immunology
  • KIR
  • NK cells

ASJC Scopus subject areas

  • Immunology
  • Endocrine and Autonomic Systems
  • Behavioral Neuroscience


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