Aliases: MHC-G
Chromosome No: 6
Chromosome Band: 6p22.1
Genetic Category: Genetic association
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 3
Evidence score: null
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Relevance to Autism
Evaluation of a 14bp insertion/deletion polymorphism (14bp+) in the 3'UTR of the HLA-G gene in a cohort of Italian families with ASD children showed that the frequency of both homozygous 14bp+/14bp+ genotype and 14bp+ allele was significantly higher in ASD children and their mothers compared to controls (p < 0.05 in all cases), and that the 14bp+ allele was more frequently transmitted to ASD children and preferentially not transmitted to non-ASD siblings [p=0.02, Odds ratio 2.6 (95% CI 1.1-6.4)] (Guerini et al., 2015). Evaluation of allelic polymorphism in exons 2, 3, and 4 in the HLA-G gene in a cohort of Italian ASD children, their mothers, and unaffected siblings, as well as in a cohort of combined controls, determined that the HLA-G*01:05N polymorphism was significantly more frequently observed in ASD children compared to combined controls (corrected P-value 5.0E-03; OR 7.3, 95% CI 2.4-26.5) (Guerini et al., 2017).
Molecular Function
Involved in the presentation of foreign antigens to the immune system. Plays a role in maternal tolerance of the fetus by mediating protection from the deleterious effects of natural killer cells, cytotoxic T-lymphocytes, macrophages and mononuclear cells.
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