Importantly, age did not influence any of these relationships, suggesting that the findings apply across childhood and adolescence. Materials provided by Elsevier.
Managing Hoarding Disorder
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On the Keto Diet? Ditch the Cheat Day Boy or Girl? Two haplotypes at three SNPs, rs, rs, and rs, were significantly associated with OCD after multiple testing corrections and contained two of the SNPs associated with expression levels. In addition, another SNP correlating with SLC1A1 gene expression, rs, was associated with an OCD hoarding sub-phenotype as assessed by two independent, validated rating scales for hoarding.
The expression and genotype database-mining approach that we used provides a new and useful complementary approach to strengthen future candidate gene studies in neuropsychiatric and other disorders which represent a large public health burden. In fact, seven of these disorders, including OCD, were listed in the World Health Organizations report on the leading causes of years of extended disability among adults.
In additional studies of the genetics of OCD, we focused on a gene suggested to be a candidate gene for OCD based on an animal model of some OCD-related compulsive behaviors. Recently, it was shown that mice deficient in the postsynaptic synapse-associated protein Sapap3 develop an OCD-like phenotype, which included compulsive grooming and increased anxiety-like behaviors.
Interestingly, the phenotype of Sapap3 gene knock-out mice can be rescued by administering SRIs, the most effective group of therapeutic agents for OCD.
We detected seven novel non-synonymous variants. SAPAP3 variants were present in 4. Thus, we observed a significant case-control association in our moderately sized sample Zuchner et al.
The majority of changes were missense mutations, while one variant was an in-frame insertion of five amino acids. Modeling analysis of these missense variants identified several variants with likely functional consequences. It is thus possible that a combination of relatively rare susceptibility variants may prove contributory to OCD, as suggested for some other disorders including autism as well as for OCD itself in our prior study of the SLC6A4 uncommon variant, IleuVal Wendland et al. In fact, a follow-up study recently reported by our colleagues in our collaborative study of siblings who were both affected by OCD found that four of six SNPs investigated in SAPAP3 were nominally associated with specifically-studied grooming disorders, with high genotypic relative risks of 1.
All three haplotypes that were identified were nominally associated with at least one grooming disorder.
This study thus brings an even sharper focus on OCD subtypes or sub-populations that may be more closely related to specific single genes. Other studies by our group of OCD-related common and uncommon gene variants and also of other OCD subtypes such as hoarding are noted in our list of publications, below. Twelve papers that were published in the last year that are listed below resulted from these collaborative studies.
Other papers that were published that have helped to refine the phenotype for OCD genetic studies are also listed. Toggle navigation.follow
Carol Mathews, M.D. - Research & Publications | UF Health, University of Florida Health
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