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Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study
O J Bienvenu1, Y Wang, Y Y Shugart
1Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. jbienven@jhmi.edu
Summary
Genetic variations in the Sapap3 gene are linked to human grooming disorders (GDs), such as nail biting and skin picking. This study suggests Sapap3 is a potential candidate gene for these conditions.
Area of Science:
- Neuroscience
- Genetics
- Behavioral Science
Background:
- SAP90/PSD95-associated protein (SAPAP) family proteins are crucial scaffolding components at excitatory synapses.
- Previous research linked Sapap3 gene deletion in mice to excessive grooming, anxiety, and synaptic defects, which were reversible.
Purpose of the Study:
- To investigate the association between human Sapap3 gene variations and grooming disorders (GDs) or obsessive-compulsive disorder (OCD).
Main Methods:
- Family-based association analyses were performed on 383 families phenotyped for OCD genetic studies.
- Six single nucleotide polymorphisms (SNPs) and three haplotypes within the Sapap3 gene were analyzed.
- Statistical packages FBAT and GenAssoc were utilized.
Main Results:
- 32% of participants met criteria for a GD, and 65% for OCD.
- Four out of six SNPs showed nominal association with at least one GD.
- Three haplotypes were also nominally associated with at least one GD.
- No significant association was found between Sapap3 variations and OCD itself.
Conclusions:
- The Sapap3 gene is a promising candidate for human grooming disorders.
- Further research is required to confirm the preliminary association evidence.
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