Strong association of the third hypervariable region of HLA-DRβ1 with autism

Warren, Reed P.; Odell, J. Dennis; Warren, W. Louise; Burger, Roger A.; Maciulis, Alma; Daniels, Wayne W.; Torres, Anthony R.

doi:10.1016/0165-5728(96)00052-5

Cited by 121 publications

(47 citation statements)

References 18 publications

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“…While Warren R. et al [38] found association with alleles DRB1*0401, DRB1*0101 and DRB1*0701, we found association with DRB1*01 alleles. His team found association with HLA-B* allele [10], which we couldn't register in the Macedonian sample of children with autism.…”

Section: Discussioncontrasting

confidence: 54%

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

Спироски¹

2015

SEE J Immunol

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Section: Discussioncontrasting

confidence: 54%

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

Спироски¹

2015

SEE J Immunol

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“…The hypervariable region 3 of DRB1*0401 has been associated with an increased relative risk for autism in children from Utah (Warren et al, 1996). DRB1 was also associated with autism in Han Chinese (Chien et al, 2012), Egyptian (Mostafa et al, 2013), and Saudi populations (AlHakbany et al, 2014).…”

Section: Immunogenetic Factorsmentioning

confidence: 99%

The Role of the Immune System in Autism Spectrum Disorder

Meltzer

Water

2016

Neuropsychopharmacol

387

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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“…18,19 Among the genes implicated in autism, several relate to immune regulation and function, including HLA-antigen presentation molecules and components of the complement system. 14,[20][21][22][23][24][25][26][27] Although abnormalities of cytokines and chemokines have been reported in the blood of patients with autism including plasma levels of tumor necrosis factor-a (TNF)-a, TNF receptor II, Interferon-gamma (IFNg), Interleukin-12 (IL-12), and IL-10, no definitive profile has emerged. Indeed, the changes reported in cytokine levels may occur in separate subgroups of autism subjects that have different clinical phenotypes.…”

Section: Introductionmentioning

confidence: 99%

A proteomic study of serum from children with autism showing differential expression of apolipoproteins and complement proteins

Corbett

Kantor²,

Schulman³

et al. 2006

Mol Psychiatry

164

113

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Modern methods that use systematic, quantitative and unbiased approaches are making it possible to discover proteins altered by a disease. To identify proteins that might be differentially expressed in autism, serum proteins from blood were subjected to trypsin digestion followed by liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) on time-of-flight (TOF) instruments to identify differentially expressed peptides. Children with autism 4-6 years of age (n = 69) were compared to typically developing children (n = 35) with similar age and gender distributions. A total of 6348 peptide components were quantified. Of these, five peptide components corresponding to four known proteins had an effect size > 0.99 with a P < 0.05 and a Mascot identification score of 30 or greater for autism compared to controls. The four proteins were: Apolipoprotein (apo) B-100, Complement Factor H Related Protein (FHR1), Complement C1q and Fibronectin 1 (FN1). In addition, apo B-100 and apo A-IV were higher in children with high compared to low functioning autism. Apos are involved in the transport of lipids, cholesterol and vitamin E. The complement system is involved in the lysis and removal of infectious organisms in blood, and may be involved in cellular apoptosis in brain. Despite limitations of the study, including the low fold changes and variable detection rates for the peptide components, the data support possible differences of circulating proteins in autism, and should help stimulate the continued search for causes and treatments of autism by examining peripheral blood.

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Strong association of the third hypervariable region of HLA-DRβ1 with autism

Cited by 121 publications

References 18 publications

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

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

The Role of the Immune System in Autism Spectrum Disorder

A proteomic study of serum from children with autism showing differential expression of apolipoproteins and complement proteins

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