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Background   A growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder (ASD) children. Here we test the hypothesis that immune-related gene loci are associated with ASD.Findings   We identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region ( CD99L2 , rs11796490,  P  = 4.01 × 10 -06 , OR = 0.68 (0.58-0.80)), in the jumonji AT rich interactive domain 2 ( JARID2 ) gene (rs13193457,  P  = 2.71 × 10 -06 , OR = 0.61 (0.49-0.75)), and in the thyroid peroxidase gene ( TPO ) (rs1514687,  P  = 5.72 × 10 -06 , OR = 1.46 (1.24-1.72)).Conclusions   This study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.

Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder