The Association and Linkage of the HLA-A2 Class I Allele with Autism

Torres, Anthony R.; Sweeten, Thayne L.; Cutler, Adele; Bedke, Brent J.; Fillmore, Melanie; Stubbs, E. Gene; Odell, Dennis

doi:10.1016/j.humimm.2006.01.001

Cited by 100 publications

(82 citation statements)

References 44 publications

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“…Multiple studies have suggested HLA-DR4 as another risk factor, appearing at increased rates in children with autism as well as their mothers (Johnson et al, 2009;Lee et al, 2006). Other positively associated alleles are the class I A*01, A*02, and B*07, while DRB1*03 and some DQB1 alleles have been negatively associated with rates of autism (Al-Hakbany et al, 2014;Mostafa et al, 2013;Torres et al, 2006). Interestingly, Guerini et al (2015) discovered a 14-basepair insertion in HLA-G that was found more often in individuals with ASD and their mothers.…”

Section: Immunogenetic Factorsmentioning

confidence: 99%

The Role of the Immune System in Autism Spectrum Disorder

Meltzer

Water

2016

Neuropsychopharmacol

405

293

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Autism is a neurodevelopmental disorder characterized by deficits in communication and social skills as well as repetitive and stereotypical behaviors. While much effort has focused on the identification of genes associated with autism, research emerging within the past two decades suggests that immune dysfunction is a viable risk factor contributing to the neurodevelopmental deficits observed in autism spectrum disorders (ASD). Further, it is the heterogeneity within this disorder that has brought to light much of the current thinking regarding the subphenotypes within ASD and how the immune system is associated with these distinctions. This review will focus on the two main axes of immune involvement in ASD, namely dysfunction in the prenatal and postnatal periods. During gestation, prenatal insults including maternal infection and subsequent immunological activation may increase the risk of autism in the child. Similarly, the presence of maternally derived anti-brain autoantibodies found in~20% of mothers whose children are at risk for developing autism has defined an additional subphenotype of ASD. The postnatal environment, on the other hand, is characterized by related but distinct profiles of immune dysregulation, inflammation, and endogenous autoantibodies that all persist within the affected individual. Further definition of the role of immune dysregulation in ASD thus necessitates a deeper understanding of the interaction between both maternal and child immune systems, and the role they have in diagnosis and treatment.

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Section: Immunogenetic Factorsmentioning

confidence: 99%

The Role of the Immune System in Autism Spectrum Disorder

Meltzer

Water

2016

Neuropsychopharmacol

405

293

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“…The transmission disequilibrium test for the A2 allele revealed an increased frequency of inheritance for autistic children (p = 0.033). There were no significant associations of autism with HLA-B alleles; however, the A2-B44 and A2-B51 haplotypes were two times more frequent in autistic subjects [41].…”

Section: Discussionmentioning

confidence: 67%

Immunological and Immunogenetic Changes in Children with Autistic Disorder in Republic of Macedonia

Спироски¹

2015

SEE J Immunol

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“…Holly's typing showed the presence of those HLA class I alleles (A2 and B44) that had previously resulted as being associated to autism (5), and the HLA class II allele (DR4) was associated both to autism andADHD (6).…”

Section: Resultsmentioning

confidence: 99%

“…Moreover, paucity and conflicting results in this area are indicative of extreme difficulty in performing these investigations that are susceptible to a multiplicity of variables, above all, the ethnic group and the sample size. A possible role of the HLA genes has also been proposed for other neurological disorders such as autism (5). Besides, it has been singled out that an HLA extended haplotype A2-B44-DR4 occurs with increased frequency in autism (9).…”

Section: Discussionmentioning

confidence: 99%

Holly's Story: Illustration of an Attention Deficit Hyperactivity Disorder Case

Aureli

Piancatelli

Beato

et al. 2008

Int J Immunopathol Pharmacol

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During the last 10years a significant increase of childhood neuropsychiatric disorders, such as attention deficit hyperactivity disorder (ADHD), has been reported. ADHD is believed to have a multifactorial etiology including multiple genetic and prenatal environmental factors. For this reason, there has been a recent revival regarding the role of autoimmunity in this pathology. An ADHD combined-type patient born from a drug-addicted mother was studied. Neuropsychological tests according to the criteria of the 4 th edition of the Diagnostic and Statistical Manual (DSM4) permitted us to make the ADHD-diagnosis. The HLA-A, -B, and -DRBI alleles of the child were determined by sequence-based typing (SBT) after DNA extraction. Although no autistic behavioral features were observed in the patient, a double genetic association between ADHD and autism was reported. In fact, HLA class I alleles (A*02 and B*44) associated to autism and the HLA class II allele (DRBI*04) associated both to autism and ADHD were identified.Attention deficit hyperactivity disorder (ADHD) is a neurobehavioral disorder that arouses continuous and increasing interest from the clinicians and genetists oriented to individuate further details which will be able to help the affected children and their families. ADHD is a multifactorial illness often linked to other childhood disorders, and multiple genes of the immune system seem to be involved in its aetiopathogenesis (I). It is also very important to report the existence of non-genetic factors, such as a premature birth, maternal smoking during pregnancy, and prenatal drug exposure that may increase the risk for behavioral disorders (2). In this study, we investigate the genetic factors that could constitute the physiological bases of this neurobehavioral disorder. In particular, the HLA genes have been studied as a group of highly polymorphic genes, mainly responsible for autoimmune etiology of a large group of pathologies. MATERIALS AND METHODSHolly is the fictitious name of a nine-year old boy with an ADHD diagnosis who arrived at our institute with other pediatric patients who were admitted to a case-control study with the aim of finding a possible association between HLA region and childhood neuropsychiatric disorders. Holly is different from the other patients as he has a complex story and he presents a multiplicity of risk factors. Firstly, Holly's mother took drugs (heroin) during pregnancy. This fact elicited withdrawal symptoms

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The Association and Linkage of the HLA-A2 Class I Allele with Autism

Cited by 100 publications

References 44 publications

The Role of the Immune System in Autism Spectrum Disorder

The Role of the Immune System in Autism Spectrum Disorder

Immunological and Immunogenetic Changes in Children with Autistic Disorder in Republic of Macedonia

Holly's Story: Illustration of an Attention Deficit Hyperactivity Disorder Case

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