Journal article
Sapap3 and Pathological Grooming in Humans: Results From the OCD Collaborative Genetics Study
American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.150(5), pp.710-720
2009
DOI: 10.1002/ajmg.b.30897
PMID: 19051237
Abstract
SAP90/PSD95-associated protein (SAPAP) family proteins are post-synaptic density (PSD) components that interact with other proteins to form a key scaffolding complex at excitatory (glutamatergic) synapses. A recent study found that mice with a deletion of the Sapap3 gene groomed themselves excessively, exhibited increased anxiety-like behaviors, and had cortico-striatal synaptic defects, all of which were preventable with lentiviral-mediated expression of Sapap3 in the striatum; the behavioral abnormalities were also reversible with fluoxetine. In the current study, we sought to determine whether variation within the human Sapap3 gene was associated with grooming disorders (GDs: pathologic nail biting, pathologic skin picking, and/or trichotillomania) and/or obsessive-compulsive disorder (OCD) in 383 families thoroughly phenotyped for OCD genetic studies. We conducted family-based association analyses using the FBAT and GenAssoc statistical packages. Thirty-two percent of the 1,618 participants met criteria for a GD, and 65% met criteria for OCD. Four of six SNPs were nominally associated (P < 0.05) with at least one GD (genotypic relative risks: 1.6–3.3), and all three haplotypes were nominally associated with at least one GD (permuted P < 0.05). None of the SNPs or haplotypes were significantly associated with OCD itself. We conclude that Sapap3 is a promising functional candidate gene for human GDs, though further work is necessary to confirm this preliminary evidence of association
Details
- Title: Subtitle
- Sapap3 and Pathological Grooming in Humans: Results From the OCD Collaborative Genetics Study
- Creators
- O. J BIENVENU - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesY WANG - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesB CULLEN - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesD VALLE - Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesR HOEHN-SARIC - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesB. D GREENBERG - Department of Psychiatry and Human Behavior, Brown Medical School, Butler Hospital, Providence, Rhode Island, United StatesA PINTO - Department of Psychiatry and Human Behavior, Brown Medical School, Butler Hospital, Providence, Rhode Island, United StatesJ. A KNOWLES - Department of Psychiatry, College of Physicians and Surgeons at Columbia University and the New York State Psychiatric Institute, New York, New York, United StatesJ PIACENTINI - Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles School of Medicine, Los Angeles, California, United StatesD. L PAULS - Psuchiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United StatesK. Y LIANG - Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, United StatesV. L WILLOUR - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesY. Y SHUGART - Department of Epidemiology, Johns Hopkins University School of Public Health, Baltimore, Maryland, United StatesM RIDDLE - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesJ. F SAMUELS - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesG FENG - Department of Neurobiology, Duke University Medical Center, Durham, North Carolina, United StatesG NESTADT - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesJ. M WELCH - Department of Neurobiology, Duke University Medical Center, Durham, North Carolina, United StatesM. A GRADOS - Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United StatesA. J FYER - Department of Psychiatry, College of Physicians and Surgeons at Columbia University and the New York State Psychiatric Institute, New York, New York, United StatesS. L RAUCH - Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United StatesJ. T MCCRACKEN - Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles School of Medicine, Los Angeles, California, United StatesS. A RASMUSSEN - Department of Psychiatry and Human Behavior, Brown Medical School, Butler Hospital, Providence, Rhode Island, United StatesD. L MURPH - Laboratory of Clinical Science, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, United States
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.150(5), pp.710-720
- Publisher
- Wiley-Liss; Hoboken, NJ
- DOI
- 10.1002/ajmg.b.30897
- PMID
- 19051237
- ISSN
- 1552-4841
- eISSN
- 1552-485X
- Language
- English
- Date published
- 2009
- Academic Unit
- Psychiatry; Iowa Neuroscience Institute
- Record Identifier
- 9984070813602771
Metrics
24 Record Views