Association of Reelin gene polymorphisms with autism

Serajee, Fatema J.; Zhong, Hailang; Huq, A.H.M. Mahbubul

doi:10.1016/j.ygeno.2005.09.008

Cited by 110 publications

(73 citation statements)

References 48 publications

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“…The most commonly assessed variant in RELN is a trinucleotide repeat polymorphism in the 5 0 UTR with unknown functional relevance. Three studies did find an association, [176][177][178] five other studies of comparable size and power did not find an association of the 5 0 UTR trinucleotide or other variants with AD. [179][180][181][182][183] The first positive finding 176 reported an association with the relatively rare longer alleles ( > 10) of the 5 0 UTR trinucleotide polymorphism with AD.…”

Section: Chromosomementioning

confidence: 86%

“…However, in another study, 178 the most common repeat 10 was over-represented in AD. One study 177 reported an association of the more common allele of SNP rs736707, which has not yet been replicated by other studies and might not be of functional relevance, as it is located in intron 59 of RELN. Despite the biochemical evidence of a possible role of Reelin in the pathogenesis of autism, the genetic findings are still inconsistent.…”

Section: Chromosomementioning

confidence: 92%

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The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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Section: Chromosomementioning

confidence: 86%

Section: Chromosomementioning

confidence: 92%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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“…In addition, a number of other immunerelated genes have been implicated in ASD, including macrophage migration inhibitory factor (MIF), 43 MET encoding tyrosine kinase, 44 the serine and threonine kinase C gene PRKCB (alias PRKCB1), 45 protein phosphatase and tensin homolog (PTEN), 46 and the reelin gene (RELN). [47][48][49] It is not known whether immune activation plays an initiating or ongoing role in the pathology of ASD. Immune activation leading to inflammation can have serious detrimental effects and could lead to destruction of tissues.…”

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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“…Genetic studies in human populations have suggested that the RELN gene may be associated with autism susceptibility, [146][147][148][149] although not all findings have been positive. [150][151][152] Fatemi et al 153,154 have shown that levels of RELN mRNA and Reelin protein are significantly deficient in the brain of autistic subjects.…”

Section: Autism Candidate Genes and Synaptic Functionmentioning

confidence: 99%

Advances in behavioral genetics: mouse models of autism

2007

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Autism is a neurodevelopmental syndrome with markedly high heritability. The diagnostic indicators of autism are core behavioral symptoms, rather than definitive neuropathological markers. Etiology is thought to involve complex, multigenic interactions and possible environmental contributions. In this review, we focus on genetic pathways with multiple members represented in autism candidate gene lists. Many of these pathways can also be impinged upon by environmental risk factors associated with the disorder. The mouse model system provides a method to experimentally manipulate candidate genes for autism susceptibility, and to use environmental challenges to drive aberrant gene expression and cell pathology early in development. Mouse models for fragile X syndrome, Rett syndrome and other disorders associated with autistic-like behavior have elucidated neuropathology that might underlie the autism phenotype, including abnormalities in synaptic plasticity. Mouse models have also been used to investigate the effects of alterations in signaling pathways on neuronal migration, neurotransmission and brain anatomy, relevant to findings in autistic populations. Advances have included the evaluation of mouse models with behavioral assays designed to reflect disease symptoms, including impaired social interaction, communication deficits and repetitive behaviors, and the symptom onset during the neonatal period. Research focusing on the effect of gene-by-gene interactions or genetic susceptibility to detrimental environmental challenges may further understanding of the complex etiology for autism.

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Association of Reelin gene polymorphisms with autism

Cited by 110 publications

References 48 publications

The genetics of autistic disorders and its clinical relevance: a review of the literature

The genetics of autistic disorders and its clinical relevance: a review of the literature

Immune Dysfunction in Autism: A Pathway to Treatment

Advances in behavioral genetics: mouse models of autism

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