{"entity": "researcher", "timestamp": "2026-10-02T02:54:42.663Z", "family": "van Grootheest", "given": "Gerard", "initials": "G", "orcid": "0000-0003-4350-6661", "affiliations": ["GGZ inGeest and Department of Psychiatry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/ea9155efff5940dd8f4412c3da59a57e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/ea9155efff5940dd8f4412c3da59a57e"}}, "publications": [{"entity": "publication", "iuid": "a425eab3728e42f09fc78807f299d7bc", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a425eab3728e42f09fc78807f299d7bc.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a425eab3728e42f09fc78807f299d7bc"}}, "title": "Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder.", "authors": [{"family": "Noh", "given": "Hyun Ji", "initials": "HJ", "orcid": "0000-0002-6634-0599", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/159b936128f7496191354f9f06b88ffd.json"}}, {"family": "Tang", "given": "Ruqi", "initials": "R"}, {"family": "Flannick", "given": "Jason", "initials": "J"}, {"family": "O'Dushlaine", "given": "Colm", "initials": "C"}, {"family": "Swofford", "given": "Ross", "initials": "R"}, {"family": "Howrigan", "given": "Daniel", "initials": "D"}, {"family": "Genereux", "given": "Diane P", "initials": "DP"}, {"family": "Johnson", "given": "Jeremy", "initials": "J"}, {"family": "van Grootheest", "given": "Gerard", "initials": "G", "orcid": "0000-0003-4350-6661", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ea9155efff5940dd8f4412c3da59a57e.json"}}, {"family": "Gr\u00fcnblatt", "given": "Edna", "initials": "E", "orcid": "0000-0001-8505-7265", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/00bc02aff3d141c29675261d9863b014.json"}}, {"family": "Andersson", "given": "Erik", "initials": "E"}, {"family": "Djurfeldt", "given": "Diana R", "initials": "DR"}, {"family": "Patel", "given": "Paresh D", "initials": "PD"}, {"family": "Koltookian", "given": "Michele", "initials": "M"}, {"family": "M Hultman", "given": "Christina", "initials": "C"}, {"family": "Pato", "given": "Michele T", "initials": "MT"}, {"family": "Pato", "given": "Carlos N", "initials": "CN"}, {"family": "Rasmussen", "given": "Steven A", "initials": "SA"}, {"family": "Jenike", "given": "Michael A", "initials": "MA"}, {"family": "Hanna", "given": "Gregory L", "initials": "GL", "orcid": "0000-0002-0742-6990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54770ce624204383bf985a1c3d9f54f0.json"}}, {"family": "Stewart", "given": "S Evelyn", "initials": "SE"}, {"family": "Knowles", "given": "James A", "initials": "JA", "orcid": "0000-0002-3307-5741", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66d1c551ab074508ba442f0ce2168555.json"}}, {"family": "Ruhrmann", "given": "Stephan", "initials": "S"}, {"family": "Grabe", "given": "Hans-J\u00f6rgen", "initials": "HJ"}, {"family": "Wagner", "given": "Michael", "initials": "M"}, {"family": "R\u00fcck", "given": "Christian", "initials": "C"}, {"family": "Mathews", "given": "Carol A", "initials": "CA"}, {"family": "Walitza", "given": "Susanne", "initials": "S"}, {"family": "Cath", "given": "Dani\u00eblle C", "initials": "DC"}, {"family": "Feng", "given": "Guoping", "initials": "G"}, {"family": "Karlsson", "given": "Elinor K", "initials": "EK", "orcid": "0000-0002-4343-3776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b5c82fcb904394b6a6b1d811863fa0.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "journal article", "published": "2017-10-17", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "8", "issue": "1", "pages": "774", "issn-l": "2041-1723"}, "abstract": "Obsessive-compulsive disorder is a severe psychiatric disorder linked to abnormalities in glutamate signaling and the cortico-striatal circuit. We sequenced coding and regulatory elements for 608 genes potentially involved in obsessive-compulsive disorder in human, dog, and mouse. Using a new method that prioritizes likely functional variants, we compared 592 cases to 560 controls and found four strongly associated genes, validated in a larger cohort. NRXN1 and HTR2A are enriched for coding variants altering postsynaptic protein-binding domains. CTTNBP2 (synapse maintenance) and REEP3 (vesicle trafficking) are enriched for regulatory variants, of which at least six (35%) alter transcription factor-DNA binding in neuroblastoma cells. NRXN1 achieves genome-wide significance (p = 6.37 \u00d7 10-11) when we include 33,370 population-matched controls. Our findings suggest synaptic adhesion as a key component in compulsive behaviors, and show that targeted sequencing plus functional annotation can identify potentially causative variants, even when genomic data are limited.Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder with symptoms including intrusive thoughts and time-consuming repetitive behaviors. Here Noh and colleagues identify genes enriched for functional variants associated with increased risk of OCD.", "doi": "10.1038/s41467-017-00831-x", "pmid": "29042551", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5645406"}, {"db": "pii", "key": "10.1038/s41467-017-00831-x"}], "notes": [], "created": "2018-12-05T12:54:34.132Z", "modified": "2026-09-23T08:37:41.290Z"}]}