SA18 - ANALYSIS OF GENETIC VARIANTS IN MEXICAN CHILDREN WITH AUTISM SPECTRUM DISORDER: AN IMMUNGENOMIC APPROACH

Abstract

Background Autism spectrum disorders encompass a large number of symptoms such as difficulty in social interaction, poor communication skills and repetitive behaviors. Recently, new hypotheses have emerged about the relationship between psychiatric diseases and abnormalities in the immune system, where evidence suggests that a part of the etiology can be explained by immunological alterations. Genomic wide association studies in Latino and Mexican populations are scarce, so in this study we used a sample of pediatric patients of Mexican mestizo origin with ASD diagnosis. Methods As a first approach to the study of genetic variants in 120 mexican children with ASD, using a high density microarray (Psycharray, Illumina) and 45 controls. This array contains variants related to common psychiatric conditions and immune system. For the analysis, the Plink and Eigensoft softwares were used. Genotypic values 1×10-4 were taken. A logistic regression was carried out and adjusted for gender and ancestry. Results As we expected, immune system genes are involved in ASD. Further, we found some genes associated with mental diseases. Some SNPs are close to immune genes as TNFRSF19 (P=4×10-4), ATG16L1 (P=2×10-4) within genes as MLIP (P=4×10-5), NUBP1 (P=4×10-4) and ATP9A (P=3×10-4). SNPs located at intergenic regions were found statistically significant either. In chromosome 4 and 7 were found a signal of several intergenic SNPs with a significant P. Discussion This is the first study in children with ASD performed in Mexican population. These results give us an idea of the SNPs contained in genes that can explain part of the etiopathogenesis of the disorder. Pathway analyses are necessary to elucidate gene interaction. Intergenic SNPs with significant P need to minucious analyses. In addition, it lays the foundation for future functional studies on the genes involved.