ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2012
Homeobox genes in obsessive-compulsive disorder.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
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- Cleft palate, congenital heart disease, and developmental delay involvingFrontiers in pediatrics · 2024Article
- New Insights into the Neurobiology of Restless Legs Syndrome.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2019Review
- Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress.Neurobiology of disease · 2016Article
- Whole-genome association analysis of treatment response in obsessive-compulsive disorder.Molecular psychiatry · 2016Article
- Gene expression patterns in the hippocampus during the development and aging of Glud1 (Glutamate Dehydrogenase 1) transgenic and wild type mice.BMC neuroscience · 2014Article
- An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.PloS one · 2014Article
- Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.PLoS genetics · 2013Article
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Authors and funding
25 authors at 11 institutions in 1 country.
Funding
Abstract
backgroundDespite evidence that obsessive-compulsive disorder (OCD) is a familial neuropsychiatric condition, progress aimed at identifying genetic determinants of the disorder has been slow. The OCD Collaborative Genetics Study (OCGS) has identified several OCD susceptibility loci through linkage analysis.
methodsIn this study we investigate two regions on chromosomes 15q and 1q by first refining the linkage region using additional short tandem repeat polymorphic (STRP) markers. We then performed association analysis on single nucleotide polymorphisms (SNP) genotyped (markers placed every 2-4 kb) in the linkage regions in the OCGS sample of 376 rigorously phenotyped affected families.
resultsThree SNPs are most strongly associated with OCD: rs11854486 (P = 0.00005 [0.046 after adjustment for multiple tests]; genetic relative risk (GRR) = 11.1 homozygous and 1.6 heterozygous) and rs4625687 [P = 0.00007 (after adjustment = 0.06); GRR = 2.4] on 15q; and rs4387163 (P = 0.0002 (after adjustment = 0.08); GRR = 1.97) on 1q. The first SNP is adjacent to NANOGP8, the second SNP is in MEIS2, and the third is 150 kb between PBX1 and LMX1A.
conclusionsAll the genes implicated by association signals are homeobox genes and are intimately involved in neurodevelopment. PBX1 and MEIS2 exert their effects by the formation of a heterodimeric complex, which is involved in development of the striatum, a brain region involved in the pathophysiology of OCD. NANOGP8 is a retrogene of NANOG, a homeobox transcription factor known to be involved in regulation of neuronal development. These findings need replication; but support the hypothesis that genes involved in striatal development are implicated in the pathogenesis of OCD.
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