Family-based transmission analysis of HLA genetic markers in Sardinian children with autistic spectrum disorders

Guerini, Franca Rosa; Bolognesi, Elisabetta; Manca, Salvatorica; Sotgiu, Stefano; Zanzottera, Milena; Agliardi, Cristina; Usai, Sonia; Clerici, Mario

doi:10.1016/j.humimm.2008.12.009

Cited by 28 publications

(18 citation statements)

References 42 publications

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“…Conversely, the D6S265*224-MOGc*117-rs2857766(G) haplotype was signifi cantly less frequently transmitted to ASD children (p < 0.01). The results present novel gene markers, reinforcing the hypothesis that genetic factors play a pivotal role in the pathogenesis of ASD (36).…”

Section: Discussionsupporting

confidence: 74%

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

Trajkovski¹,

Спироски²

2015

BLL

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Abstract:In the present study, we report the fi rst DNA analysis of HLA class I and class II alleles in Macedonian autistic subjects. We have analyzed the HLA-A, -C, -B, DRB1 genotypes of 35 autistic patients, and 98 healthy unrelated Macedonians (control group). HLA DNA typing of class I genes was performed using a Reverse Line Strip method (RLS), and the Sequencing Based Typing method (SBT) was used for typing of class II genes. In the autistic subjects for HLA-A locus 14 alleles have been identifi ed with 2 being predominant *02 (25.7 %), and *24 (18.6 %). Among the 11 identifi ed HLA-C alleles, 3 were predominant such as *12 (20.0 %), *07 (17.1 %), and *03 (12.9 %). Among the 18 identifi ed HLA-B alleles, 2 were predominant: *51 (18.6 %), and *18 (11.4 %). For HLA-DRB1 locus, 10 alleles have been identifi ed with 2 of them predominant such as: *11 (21.4 %), and *01 (14.3 %). The allele and haplotype frequencies in the patients group were compared to those of 98 control subjects. Our results showed signifi cantly increased frequencies of HLA-C*03 (OR = 2.74*; χ 2 = 4.68; p = 0.03), and HLA-DRB1*01 (OR = 3.10*; χ 2 = 6.26; p = 0.012) alleles in autistic patients when compared to the controls.

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Section: Discussionsupporting

confidence: 74%

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

Trajkovski¹,

Спироски²

2015

BLL

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“…Alternatively, the presence of these Lee et al 37 Differences were found between the geographical defined families and controls, but not between the geographical diverse families and controls. § Guerini et al 38 did not find an HLA linkage, but did find linkages to microsatellite regions in proximity to previously reported HLA linkages.…”

Section: Autoimmunity and Immune Dysfunction In Individuals With Asdmentioning

confidence: 67%

“…Allelic deficiencies in the this gene, as well as its protein product, have been reported in ASD. 40 -42 In ASD children from Sardinia, Guerini et al 38 found no apparent HLA linkage, but several microsatellite linkages within the MHC were associated with ASD. These data suggest that genetic abnormalities in the MHC are not solely confined to HLA genes themselves, but also include genes in near proximity.…”

Section: Autoimmunity and Immune Dysfunction In Individuals With Asdmentioning

confidence: 99%

Immune Dysfunction in Autism: A Pathway to Treatment

2010

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Summary: Autism is a complex and clinically heterogeneous disorder with a spectrum of symptoms. Clinicians, schools, and service agencies worldwide have reported a dramatic increase in the number of children identified with autism. Despite expanding research, the etiology and underlying biological processes of autism remain poorly understood, and the relative contribution from genetic, epigenetic, and environmental factors remains unclear. Although autism affects primarily brain function (especially affect, social functioning, and cognition), it is unknown to what extent other organs and systems are disrupted. Published findings have identified widespread changes in the immune systems of children with autism, at both systemic and cellular levels. Brain specimens from autism subjects exhibit signs of active, ongoing inflammation, as well as alterations in gene pathways associated with immune signaling and immune function. Moreover, many genetic studies have indicated a link between autism and genes that are relevant to both the nervous system and the immune system. Alterations in these pathways can affect function in both systems. Together, these reports suggest that autism may in fact be a systemic disorder with connections to abnormal immune responses. Such immune system dysfunction may represent novel targets for treatment. A better understanding of the involvement of the immune response in autism, and of how early brain development is altered, may have important therapeutic implications.

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“…Interestingly, the individual components of AH 44.1 (A2-B44-SC30-DR4) include a deleted C4B gene and DR β 1*0401, both of which have been shown independently to be significantly associated with ASD [93, 94]. Examination with different genetic markers than those used by Warren suggested that certain HLA haplotypes are associated with autism in Sardinian and Italian families [95, 96]. …”

Section: Hla Associations In Asdmentioning

confidence: 99%

HLA Immune Function Genes in Autism

Torres

Westover

Rosenspire

2012

Autism Research and Treatment

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The human leukocyte antigen (HLA) genes on chromosome 6 are instrumental in many innate and adaptive immune responses. The HLA genes/haplotypes can also be involved in immune dysfunction and autoimmune diseases. It is now becoming apparent that many of the non-antigen-presenting HLA genes make significant contributions to autoimmune diseases. Interestingly, it has been reported that autism subjects often have associations with HLA genes/haplotypes, suggesting an underlying dysregulation of the immune system mediated by HLA genes. Genetic studies have only succeeded in identifying autism-causing genes in a small number of subjects suggesting that the genome has not been adequately interrogated. Close examination of the HLA region in autism has been relatively ignored, largely due to extraordinary genetic complexity. It is our proposition that genetic polymorphisms in the HLA region, especially in the non-antigen-presenting regions, may be important in the etiology of autism in certain subjects.

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Family-based transmission analysis of HLA genetic markers in Sardinian children with autistic spectrum disorders

Cited by 28 publications

References 42 publications

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

Immune Dysfunction in Autism: A Pathway to Treatment

HLA Immune Function Genes in Autism

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