An HLA-G*14bp insertion/deletion polymorphism associates with the development of autistic spectrum disorders

Franca R. Guerini, Elisabetta Bolognesi, Matteo Chiappedi, Alessandro Ghezzo, Maria Paola Canevini, Martina M. Mensi, Aglaia Vignoli, Cristina Agliardi, Michela Zanette, Mario Clerici

Research output: Contribution to journalArticlepeer-review


HLA-G expressed by the trophoblast ligates KIR molecules expressed by maternal NK cells at the uterine fetal/maternal interface: this interaction is involved in generating immune tolerance during pregnancy. A 14-bp insertion in the HLA-G 3'-UTR associates with significantly reduced levels of both HLA-G mRNA and soluble HLA-G, thus hampering the efficacy of HLA-G-mediated immune tolerance during pregnancy. Because prenatal immune activation is suggested to play an important role in the onset of autistic spectrum disorders (ASD) we performed an in-depth evaluation of HLA-G polymorphisms in a well-characterized cohort of Italian families of ASD children. Results showed that frequency of both homozygous 14bp+/14bp+ genotype and 14bp+ allele was significantly higher in ASD children and their mothers compared to controls (p

Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalBrain, Behavior, and Immunity
Publication statusPublished - Feb 1 2015


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

ASJC Scopus subject areas

  • Immunology
  • Behavioral Neuroscience
  • Endocrine and Autonomic Systems
  • Medicine(all)


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