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Relevance to Autism

IL-6 has been shown to mediate behavioral abnormalities in offspring induced by maternal immune activation (Smith et al., 2007). Differential expression of IL-6 has also been observed in blood and brain tissue from ASD cases compared to controls in multiple studies (Li et al., 2009; Ashwood et al., 2011; Wei et al., 2011; Ricci et al., 2013).

Molecular Function

This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Maternal immune activation alters fetal brain development through interleukin-6.
Support
Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome.
ASD
Support
Elevated immune response in the brain of autistic patients.
ASD
Support
Altered cytokine and BDNF levels in autism spectrum disorder.
ASD
Support
IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation.
ASD
Recent Recommendation
Interleukin-6 Regulates Adult Neural Stem Cell Numbers during Normal andAbnormal Post-natal Development.

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion-Duplication
 12
 
7
Duplication
 1
 
7
Deletion
 3
 
7
Duplication
 1
 
7
Duplication
 1
 
7
Duplication
 1
 
7
Deletion
 2
 

No Animal Model Data Available

 

No Interactions Available
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