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

Franca R Guerini, Elisabetta Bolognesi, Stefano Sotgiu, Alessandra Carta, Claudia Clerici, Matteo Chiappedi, Alessandro Ghezzo, Michela Zanette, Maria M Mensi, Maria P Canevini, Milena Zanzottera, Cristina Agliardi, Andrea S Costa, Umberto Balottin, Mario Clerici

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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.

Original languageEnglish
Pages (from-to)314-318
Number of pages5
JournalBrain, Behavior, and Immunity
Volume79:
DOIs
Publication statusPublished - Jun 11 2019

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HLA-G Antigens
Alleles
Autism Spectrum Disorder
Population
Myeloid Leukemia
Denmark
Fetal Development
DNA Sequence Analysis
GTP-Binding Proteins
Italy
Brazil
Siblings
Exons
Healthy Volunteers

Cite this

@article{8d8293a4b15e4ce3a1049f99760d10cd,
title = "HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study",
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.",
author = "Guerini, {Franca R} and Elisabetta Bolognesi and Stefano Sotgiu and Alessandra Carta and Claudia Clerici and Matteo Chiappedi and Alessandro Ghezzo and Michela Zanette and Mensi, {Maria M} and Canevini, {Maria P} and Milena Zanzottera and Cristina Agliardi and Costa, {Andrea S} and Umberto Balottin and Mario Clerici",
note = "Copyright {\circledC} 2019 Elsevier Inc. All rights reserved.",
year = "2019",
month = "6",
day = "11",
doi = "10.1016/j.bbi.2019.02.003",
language = "English",
volume = "79:",
pages = "314--318",
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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

N1 - Copyright © 2019 Elsevier Inc. All rights reserved.

PY - 2019/6/11

Y1 - 2019/6/11

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 (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.

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 (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.

U2 - 10.1016/j.bbi.2019.02.003

DO - 10.1016/j.bbi.2019.02.003

M3 - Article

C2 - 30763769

VL - 79:

SP - 314

EP - 318

JO - Brain, Behavior, and Immunity

JF - Brain, Behavior, and Immunity

SN - 0889-1591

ER -