Neuropediatrics 2006; 37 - PS4_4_5
DOI: 10.1055/s-2006-945808

IMMUNOGENETIC STUDIES IN AUTISM

FJ Serajee 1, R Nabi 1, H Zhong 1, AHMM Huq 1
  • 1Wayne State University, Detroit, MI, United States

Objectives: Immune system abnormalities, including autoimmunity, defects in different subsets of immune cells and association with major histocompatibility complex genes have been reported in children with autism, suggesting that immune factors play a role in the development of autism. We investigated single nucleotide polymorphisms (SNPs) in immunity-related genes that map to areas of linkage to autism for evidence of association. These genes include interleukin 4 receptor alpha (IL4R), interleukin 9 receptor (ILR9), chemokine ligand 2 (CCL2), chemokine ligand 24 (CCL24), intercellular adhesion molecule-5 (ICAM5, telencephalin), and major histocompatibility complex genes (HLADOB, HLA-DQA1, HLA-DQB2, HLA-DRA, HLA-DRB5, C4B, TAP1, TAP2).

Methods: We used DNA samples from 200 multiplex Autism Genetic Resource Exchange families for the association study. For some polymorphisms, we genotyped a second subset of 178 families. Genotyping was performed by high throughput single base primer extension assays through Orchid Biosciences and Genaissance. Family based association analyses were performed using transmission disequilibrium test (TDT) and pedigree disequilibrium test (PDT).

Results: There were nominally significant differences in the transmission of the alleles of two SNPs in ICAM5 gene and three SNPs in IL4R gene to autistic subjects. When these polymorphisms were investigated in a second subset of 178 Autism families, one SNP in ICAM5 gene revealed significant transmission to autistic subjects in both subsets of families. Conclusions: Our findings suggest a role of genetic variations in ICAM5 gene in autism.