Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0

Expression data from the human cerebellum brain


ABSTRACT: Background: Autism spectrum disorder (ASD) is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for association of common variants with autism susceptibility risk has met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum. Methods:M-BM- In this study, we utilized publically available GWAS data from the Autism Genome Project (AGP) and annotated the results (p < 0.001) for eQTLs present in the parietal lobe, cerebellum, and lymphoblastoid cell lines. We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency in order to generate an empirical p-value indicating statistically significant enrichment of eQTLs in top results from the autism GWAS. Results:M-BM- Our findings show a global enrichment of brain eQTLs, but not LCL eQTLs, among top SNPs from an autism GWAS. Additionally, the data implicates individual genesM-BM- SLC25A12,M-BM- PANX1M-BM- andM-BM- PANX2, as well as pathways previously implicated in autism. Conclusions:M-BM- These findings provide supportive rationale for the use of annotation-based approaches to GWAS. We use microarray technology to understand the etiology and pathology of psychiatric diseases at the transcriptomic level. Postmortem human brain samples came from the Stanley Medical Research InstituteM-bM-^@M-^Ys Neuropathology Consortium and Array collections, including schizophrenia, bipolar disorder and control samples.

ORGANISM(S): Homo sapiens

SUBMITTER: Chao Chen 

PROVIDER: E-GEOD-35974 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

Similar Datasets

2012-12-31 | E-GEOD-35977 | biostudies-arrayexpress
2011-05-01 | E-GEOD-28521 | biostudies-arrayexpress
2011-07-12 | E-GEOD-30573 | biostudies-arrayexpress
2011-05-01 | GSE28521 | GEO
2011-07-12 | GSE30573 | GEO
2023-12-27 | GSE227346 | GEO
2014-05-16 | E-GEOD-54562 | biostudies-arrayexpress
2014-05-16 | E-GEOD-54563 | biostudies-arrayexpress
2014-05-16 | E-GEOD-54564 | biostudies-arrayexpress
2014-05-16 | E-GEOD-54565 | biostudies-arrayexpress