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 (pc = 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

HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study / Guerini, Franca R.; Bolognesi, Elisabetta; Sotgiu, Stefano; Carta, Alessandra; Clerici, Claudia; Chiappedi, Matteo; Ghezzo, Alessandro; Zanette, Michela; Mensi, Maria M.; Canevini, Maria P.; Zanzottera, Milena; Agliardi, Cristina; Costa, Andrea S.; Balottin, Umberto; Clerici, Mario. - In: BRAIN BEHAVIOR AND IMMUNITY. - ISSN 0889-1591. - Feb 11. pii: S0889-1591(18)30614-7:(2019). [10.1016/j.bbi.2019.02.003]

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

Sotgiu, Stefano
Membro del Collaboration Group
;
Carta, Alessandra
Membro del Collaboration Group
;
2019

Abstract

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 (pc = 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
HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study / Guerini, Franca R.; Bolognesi, Elisabetta; Sotgiu, Stefano; Carta, Alessandra; Clerici, Claudia; Chiappedi, Matteo; Ghezzo, Alessandro; Zanette, Michela; Mensi, Maria M.; Canevini, Maria P.; Zanzottera, Milena; Agliardi, Cristina; Costa, Andrea S.; Balottin, Umberto; Clerici, Mario. - In: BRAIN BEHAVIOR AND IMMUNITY. - ISSN 0889-1591. - Feb 11. pii: S0889-1591(18)30614-7:(2019). [10.1016/j.bbi.2019.02.003]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/220354
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