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 (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 language | English |
|---|---|
| Journal | Brain, Behavior, and Immunity |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
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Keywords
- 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
Cite this
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, 01.01.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - HLA-G allelic distribution in Sardinian children with Autism spectrum disorders
T2 - A replication study
AU - Guerini, Franca R.
AU - Bolognesi, Elisabetta
AU - Sotgiu, Stefano
AU - Carta, Alessandra
AU - Clerici, Claudia
AU - Chiappedi, Matteo
AU - Ghezzo, Alessandro
AU - Zanette, Michela
AU - Mensi, Maria M.
AU - Canevini, Maria P.
AU - Zanzottera, Milena
AU - Agliardi, Cristina
AU - Costa, Andrea S.
AU - Balottin, Umberto
AU - Clerici, Mario
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Autistic spectrum disorder
KW - Genetic polymorphism
KW - HLA-G
KW - Immune system
KW - In utero immunology
KW - KIR
KW - NK cells
UR - http://www.scopus.com/inward/record.url?scp=85061396386&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061396386&partnerID=8YFLogxK
U2 - 10.1016/j.bbi.2019.02.003
DO - 10.1016/j.bbi.2019.02.003
M3 - Article
AN - SCOPUS:85061396386
JO - Brain, Behavior, and Immunity
JF - Brain, Behavior, and Immunity
SN - 0889-1591
ER -