rs1046041 - POLR2E

Magnitude 2.2 · 1 study on file

Reported associations

• Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism - Unknown journal (n.d.) · Unknown authors · PubMed 32747698

  ABSTRACT: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large genetically informative cohorts of individuals with ASD have led to the identification of a limited number of common genome-wide significant (GWS) risk loci to date. However, many more common genetic variants are expected to contribute to ASD risk given the high heritability. Here, we performed a genome-wide association study (GWAS) on 6222 case-pseudocontrol pairs from the Simons Foundation Powering Autism Research for Knowledge (SPARK) dataset to identify additional common genetic risk factors and molecular mechanisms underlying risk for ASD. We identified one novel GWS locus from the SPARK GWAS and four significant loci, including an additional novel locus from meta-analysis with a previous

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