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A recent study found that mice with a deletion of the <jats:italic>Sapap3<\/jats:italic> gene groomed themselves excessively, exhibited increased anxiety\u2010like behaviors, and had cortico\u2010striatal synaptic defects, all of which were preventable with lentiviral\u2010mediated expression of <jats:italic>Sapap3<\/jats:italic> in the striatum; the behavioral abnormalities were also reversible with fluoxetine. In the current study, we sought to determine whether variation within the human <jats:italic>Sapap3<\/jats:italic> gene was associated with grooming disorders (GDs: pathologic nail biting, pathologic skin picking, and\/or trichotillomania) and\/or obsessive\u2010compulsive disorder (OCD) in 383 families thoroughly phenotyped for OCD genetic studies. We conducted family\u2010based association analyses using the FBAT and GenAssoc statistical packages. Thirty\u2010two percent of the 1,618 participants met criteria for a GD, and 65% met criteria for OCD. Four of six SNPs were nominally associated (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05) with at least one GD (genotypic relative risks: 1.6\u20133.3), and all three haplotypes were nominally associated with at least one GD (permuted <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05). None of the SNPs or haplotypes were significantly associated with OCD itself. We conclude that <jats:italic>Sapap3<\/jats:italic> is a promising functional candidate gene for human GDs, though further work is necessary to confirm this preliminary evidence of association. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30897","type":"journal-article","created":{"date-parts":[[2008,12,2]],"date-time":"2008-12-02T18:35:53Z","timestamp":1228242953000},"page":"710-720","source":"Crossref","is-referenced-by-count":195,"title":["<i>Sapap3<\/i> and pathological grooming in humans: Results from the OCD collaborative genetics 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