Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders

AbstractSelf-domestication could contribute to shaping the biology of human brain and consequently the predisposition to neurodevelopmental disorders. Leveraging genome-wide data from the Psychiatric Genomics Consortium, we tested the enrichment of self-domestication and neural crest function loci with respect to the heritability of autism spectrum disorder, schizophrenia (SCZ in East Asian and European ancestries, EAS and EUR, respectively), attention-deficit/hyperactivity disorder, obsessive –compulsive disorder, and Tourette’s syndrome (TS). Considering only self-domestication and neural-crest-function annotations in the linkage disequilibrium score regression (LDSC) model, our partitioned heritability analysis revealed statistically significant enrichments across all disorders inv estigated. The estimates of the heritability enrichments for self-domestication loci were similar across neurodevelopmental disorders, ranging from 0.902 (EAS SCZ,p = 4.55 × 10–20) to 1.577 (TS,p = 5.85 × 10–5). Conversely, a wider spectrum of heritability enrichment estimates was present for neural crest function with the highest enrichment observed for TS (enrichment  = 3.453,p  =  2.88 × 10–3) and the lowest for EAS SCZ (enrichment  = 1.971,p = 3.81 × 10–3). Although these estimates appear to be strong, the enrichments for self-domestication and neural crest function were null once we included additional annotations related to different ...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research