ArticlemedRxiv : the preprint server for health sciences2025
A genomic study of trichotillomania and excoriation disorder in families.
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Trichotillomania and excoriation disorder are obsessive-compulsive related disorders that are often subclassified together as body-focused repetitive behavior (BFRB) disorders. While previous research suggests shared genetic factors, the genetic architecture of these BFRBs remains incompletely understood. Probands with trichotillomania and/or excoriation disorder and both of their biological parents were recruited for an ongoing genetic study of parent-offspring trios with BFRBs. Genome-wide array data were generated in 110 families (334 individuals total) to investigate the role of both common single-nucleotide polymorphisms and rare copy-number variants (CNVs). Polygenic risk scores were calculated using summary statistics from genome-wide association studies of related psychiatric conditions, including obsessive-compulsive disorder (OCD), depression, anxiety, and attention deficit/hyperactivity disorder. Using the polygenic transmission disequilibrium test, we observed a significant over-transmission of polygenic risk for OCD in probands of European ancestry from their parents (mean pTDT = 0.36,
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