An Activating Killer-Cell Immunoglobulin-Like Receptor (KIR) Gene-Content Haplotype (cB01) is Increased in Autism


Annelise Dykes

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USU Student Showcase

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Anthony R. Torres


Autism is a general term that describes a complex group of neurodevelopmental disorders. These disorders are characterized by deficits in communication and social skills and the presence of repetitive stereotyped behaviors. It has long been suspected that there is a genetic component of autism. Many studies have attempted to identify the genetic risk using a genetic screening method. After studying the entire genome of thousands of subjects, these methods have only identified about 5-10% of the risk.

We have taken a more targeted approach to studying the genetic component of autism. It has been shown that the resting state of NK-cell (natural killer cell) killing is increased in autistic subjects. It has also been shown that KIR (killer-cell immunoglobulin-like receptor) genes, the genes that encode proteins that activate or inhibit the killing response, have been associated with several autoimmune diseases, cancer, and HIV infections. Research done at the CPD suggests that there is a link between the immune system and autism, specifically, a significant association between an increase in activating KIR genes and their cognate HLA (human leukocyte antigen) ligands (Torres 2012). Our objective is to extend this research by examining KIR gene-content haplotypes associated with autism. At this point, our data suggests a significant increase in the activating gene-content cB01 haplotype (p=0.00048) (Odds Ratio =1.7097).

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