Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder.

ABSTRACT: It is challenge to pinpoint the functional variants among numerous genetic variants. Investigating the spatial dynamics of the human brain transcriptome for genes and exploring the expression quantitative trait loci data may provide the potential direction to identify the functional variants among autism spectrum disorders (ASD) patients. In order to explore the association of ITIH3 with ASD, the present study included three components: identifying the spatial-temporal expression of ITIH3 in the developing human brain using the expression data from the Allen Institute for Brain Science; examining the cis-acting regulatory effect of SNPs on the ITIH3 expression using UK Brain Expression Consortium database; validating the effect of identified SNPs using a case-control study with samples of

SUBMITTER: Xie X 

PROVIDER: S-EPMC7089985 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature