dc.contributor.author |
Huang AY |
|
dc.contributor.author |
Yu D |
|
dc.contributor.author |
Davis LK |
|
dc.contributor.author |
Sul JH |
|
dc.contributor.author |
Tsetsos F |
|
dc.contributor.author |
Ramensky V |
|
dc.contributor.author |
Zelaya I |
|
dc.contributor.author |
Ramos EM |
|
dc.contributor.author |
Osiecki L |
|
dc.contributor.author |
Chen JA |
|
dc.contributor.author |
McGrath LM |
|
dc.contributor.author |
Illmann C |
|
dc.contributor.author |
Sandor P |
|
dc.contributor.author |
Barr CL |
|
dc.contributor.author |
Grados M |
|
dc.contributor.author |
Singer HS |
|
dc.contributor.author |
Nothen MM |
|
dc.contributor.author |
Hebebrand J |
|
dc.contributor.author |
King RA |
|
dc.contributor.author |
Dion Y |
|
dc.contributor.author |
Rouleau G |
|
dc.contributor.author |
Budman CL |
|
dc.contributor.author |
Depienne C |
|
dc.contributor.author |
Worbe Y |
|
dc.contributor.author |
Hartmann A |
|
dc.contributor.author |
Muller-Vahl KR |
|
dc.contributor.author |
Stuhrmann M |
|
dc.contributor.author |
Aschauer H |
|
dc.contributor.author |
Stamenkovic M |
|
dc.contributor.author |
Schloegelhofer M |
|
dc.contributor.author |
Konstantinidis A |
|
dc.contributor.author |
Lyon GJ |
|
dc.contributor.author |
McMahon WM |
|
dc.contributor.author |
Barta, Csaba |
|
dc.contributor.author |
Tárnok, Zsanett |
|
dc.contributor.author |
Nagy, Péter |
|
dc.contributor.author |
Batterson JR |
|
dc.contributor.author |
Rizzo R |
|
dc.contributor.author |
Cath DC |
|
dc.contributor.author |
Wolanczyk T |
|
dc.contributor.author |
Berlin C |
|
dc.contributor.author |
Malaty IA |
|
dc.contributor.author |
Okun MS |
|
dc.contributor.author |
Woods DW |
|
dc.contributor.author |
Rees E |
|
dc.contributor.author |
Pato CN |
|
dc.contributor.author |
Pato MT |
|
dc.contributor.author |
Knowles JA |
|
dc.contributor.author |
Posthuma D |
|
dc.contributor.author |
Pauls DL |
|
dc.contributor.author |
Cox NJ |
|
dc.contributor.author |
Neale BM |
|
dc.contributor.author |
Freimer NB |
|
dc.contributor.author |
Paschou P |
|
dc.contributor.author |
Mathews CA |
|
dc.contributor.author |
Scharf JM |
|
dc.contributor.author |
Coppola G |
|
dc.contributor.author |
Tourette Syndrome Association International Consortium for Genetics (TSAICG) |
|
dc.contributor.author |
Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI) |
|
dc.date.accessioned |
2019-04-15T08:31:10Z |
|
dc.date.available |
2019-04-15T08:31:10Z |
|
dc.date.issued |
2017 |
|
dc.identifier.citation |
journalVolume=94;journalIssueNumber=6;journalTitle=NEURON;pagerange=1101-1111.e.7;journalAbbreviatedTitle=NEURON; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/6793 |
|
dc.identifier.uri |
doi:10.1016/j.neuron.2017.06.010 |
|
dc.description.abstract |
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 x 10-3) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 x 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. |
|
dc.format.extent |
1101-1111 |
|
dc.relation.ispartof |
urn:issn:0896-6273 |
|
dc.title |
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome |
|
dc.type |
Journal Article |
|
dc.date.updated |
2019-02-27T12:20:19Z |
|
dc.language.rfc3066 |
en |
|
dc.rights.holder |
NULL |
|
dc.identifier.mtmt |
3249806 |
|
dc.identifier.wos |
000403820200009 |
|
dc.identifier.pubmed |
28641109 |
|
dc.contributor.department |
SE/AOK/I/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet |
|
dc.contributor.institution |
Semmelweis Egyetem |
|