Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.

ABSTRACT: Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expression to find significant variations. More than 1800 patients were screened, and 70 (47 male/23 female) with an average age of 7.56 ± 3.68 years fulfilled the DSM-5 criteria for autism. Analysis revealed 682 SNPs of 589 genes significantly (p < 0.001) associated with autism among the putative functional exonic variants (n = 243,345) studied. Olfactory receptor genes on chromosome 6 were significant after Bonferroni correction (α = 0.05/243345 = 2.05 × 10^-7) with a high de

SUBMITTER: Almandil NB 

PROVIDER: S-EPMC8880056 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature