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Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
- Source :
-
Neuron . Jun2017, Vol. 94 Issue 6, p1101-1111.e7. 1p. - Publication Year :
- 2017
-
Abstract
- Summary Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39–3.79], p = 1.2 × 10 −3 ) and known, pathogenic CNVs (OR = 3.03 [1.85–5.07], p = 1.5 × 10 −5 ). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk ( NRXN1 deletions, OR = 20.3, 95% CI [2.6–156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3–45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08966273
- Volume :
- 94
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Neuron
- Publication Type :
- Academic Journal
- Accession number :
- 123657896
- Full Text :
- https://doi.org/10.1016/j.neuron.2017.06.010