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

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)).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.