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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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HLA-G*14 bp indel variant in autism spectrum disorder in a population from southern Brazil

Marina Ziliotto1, Bruna Kulmann-Leal1, Valéria de Lima Kaminski2

  • 1Laboratory of Immunobiology and Immunogenetics, Department of Genetics, Universidade Federal do Rio Grande do Sul - UFRGS, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul - UFRGS, Porto Alegre, Brazil.

Journal of Neuroimmunology
|September 8, 2023
PubMed

Altered immune response during pregnancy has been associated with ASD susceptibility. HLA-G is expressed by the trophoblast at the maternal/fetal interface and induces allogenic tolerance toward the fetus. A 14-bp insertion in the HLA-G 3'UTR (rs371194629) was associated with reduced levels of HLA-G. We aimed to assess the influence of the HLA-G*14 bp indel variant in ASD susceptibility and symptomatology in a Brazilian admixed sample. The insertion genotype (14 bp+/14 bp+) was firstly associated with hetero aggression, but statistical significance was lost after correction (p = 0.035, pcorrected = 0.35). No association between the HLA-G variant and susceptibility to ASD or differential clinical manifestations were observed.

Keywords:
ASDAutism spectrum disorderHLA-G 3’UTRImmunogeneticsMaternal/fetal interfacePolymorphism

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