{"entity": "researcher", "timestamp": "2026-06-08T04:41:58.319Z", "family": "Hansen", "given": "Thomas", "initials": "T", "orcid": "0000-0001-6703-7762", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/56994131a2ef4278b802dc55c838d88a.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/56994131a2ef4278b802dc55c838d88a"}}, "publications": [{"entity": "publication", "iuid": "bab887d8bdcd4298b21a1edc1dca962e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bab887d8bdcd4298b21a1edc1dca962e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bab887d8bdcd4298b21a1edc1dca962e"}}, "title": "Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.", "authors": [{"family": "Bryois", "given": "Julien", "initials": "J"}, {"family": "Skene", "given": "Nathan G", "initials": "NG"}, {"family": "Hansen", "given": "Thomas Folkmann", "initials": "TF", "orcid": "0000-0001-6703-7762", "researcher": {"href": "https://publications.scilifelab.se/researcher/56994131a2ef4278b802dc55c838d88a.json"}}, {"family": "Kogelman", "given": "Lisette J A", "initials": "LJA"}, {"family": "Watson", "given": "Hunna J", "initials": "HJ", "orcid": "0000-0001-8405-381X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fd919535931490ba39b80b794349c49.json"}}, {"family": "Liu", "given": "Zijing", "initials": "Z"}, {"family": "Eating Disorders Working Group of the Psychiatric Genomics Consortium", "given": "", "initials": ""}, {"family": "International Headache Genetics Consortium", "given": "", "initials": ""}, {"family": "23andMe Research Team", "given": "", "initials": ""}, {"family": "Brueggeman", "given": "Leo", "initials": "L"}, {"family": "Breen", "given": "Gerome", "initials": "G", "orcid": "0000-0003-2053-1792", "researcher": {"href": "https://publications.scilifelab.se/researcher/e25b495fde8d4e1d9f26779c2af6a541.json"}}, {"family": "Bulik", "given": "Cynthia M", "initials": "CM"}, {"family": "Arenas", "given": "Ernest", "initials": "E", "orcid": "0000-0003-0197-6577", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3bb18ad1c4b4dae99b60ab0ae13e36a.json"}}, {"family": "Hjerling-Leffler", "given": "Jens", "initials": "J", "orcid": "0000-0002-4539-1776", "researcher": {"href": "https://publications.scilifelab.se/researcher/51675f0ff9aa47d89d6b2eb84a14820a.json"}}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF", "orcid": "0000-0002-6619-873X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d95de0b5ab14586980a6a13c8299346.json"}}], "type": "journal article", "published": "2020-05-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "issn-l": "1061-4036", "volume": "52", "issue": "5", "pages": "482-493"}, "abstract": "Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson's disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson's disease.", "doi": "10.1038/s41588-020-0610-9", "pmid": "32341526", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-020-0610-9"}, {"db": "pmc", "key": "PMC7930801"}, {"db": "mid", "key": "NIHMS1672179"}], "notes": [], "created": "2020-05-06T12:23:56.414Z", "modified": "2024-01-16T13:48:42.561Z"}, {"entity": "publication", "iuid": "f25fd87e63e24502843cd39b5c596172", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f25fd87e63e24502843cd39b5c596172.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f25fd87e63e24502843cd39b5c596172"}}, "title": "Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.", "authors": [{"family": "Marshall", "given": "Christian R", "initials": "CR"}, {"family": "Howrigan", "given": "Daniel P", "initials": "DP"}, {"family": "Merico", "given": "Daniele", "initials": "D"}, {"family": "Thiruvahindrapuram", "given": "Bhooma", "initials": "B"}, {"family": "Wu", "given": "Wenting", "initials": "W"}, {"family": "Greer", "given": "Douglas S", "initials": "DS"}, {"family": "Antaki", "given": "Danny", "initials": "D"}, {"family": "Shetty", "given": "Aniket", "initials": "A"}, {"family": "Holmans", "given": "Peter A", "initials": "PA"}, {"family": "Pinto", "given": "Dalila", "initials": "D", "orcid": "0000-0002-8769-0846", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd1cc4756157463f9c18f03d10531a33.json"}}, {"family": "Gujral", "given": "Madhusudan", "initials": "M"}, {"family": "Brandler", "given": "William M", "initials": "WM"}, {"family": "Malhotra", "given": "Dheeraj", 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"given": "T\u00f5nu", "initials": "T"}, {"family": "Gejman", "given": "Pablo V", "initials": "PV"}, {"family": "Gill", "given": "Michael", "initials": "M"}, {"family": "Gurling", "given": "Hugh", "initials": "H"}, {"family": "Hultman", "given": "Christina M", "initials": "CM"}, {"family": "Iwata", "given": "Nakao", "initials": "N"}, {"family": "Jablensky", "given": "Assen V", "initials": "AV"}, {"family": "J\u00f6nsson", "given": "Erik G", "initials": "EG"}, {"family": "Kendler", "given": "Kenneth S", "initials": "KS"}, {"family": "Kirov", "given": "George", "initials": "G"}, {"family": "Knight", "given": "Jo", "initials": "J"}, {"family": "Levinson", "given": "Douglas F", "initials": "DF"}, {"family": "Li", "given": "Qingqin S", "initials": "QS"}, {"family": "McCarroll", "given": "Steven A", "initials": "SA"}, {"family": "McQuillin", "given": "Andrew", "initials": "A"}, {"family": "Moran", "given": "Jennifer L", "initials": "JL"}, {"family": "Mowry", "given": "Bryan J", "initials": "BJ"}, {"family": "N\u00f6then", "given": "Markus M", "initials": "MM"}, {"family": "Ophoff", "given": "Roel A", "initials": "RA"}, {"family": "Owen", "given": "Michael J", "initials": "MJ"}, {"family": "Palotie", "given": "Aarno", "initials": "A"}, {"family": "Pato", "given": "Carlos N", "initials": "CN"}, {"family": "Petryshen", "given": "Tracey L", "initials": "TL"}, {"family": "Posthuma", "given": "Danielle", "initials": "D"}, {"family": "Rietschel", "given": "Marcella", "initials": "M"}, {"family": "Riley", "given": "Brien P", "initials": "BP"}, {"family": "Rujescu", "given": "Dan", "initials": "D"}, {"family": "Sklar", "given": "Pamela", "initials": "P"}, {"family": "St Clair", "given": "David", "initials": "D"}, {"family": "Walters", "given": "James T R", "initials": "JTR"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "O'Donovan", "given": "Michael C", "initials": "MC"}, {"family": "Scherer", "given": "Stephen W", "initials": "SW"}, {"family": "Neale", "given": "Benjamin M", "initials": "BM"}, {"family": "Sebat", "given": "Jonathan", "initials": "J", "orcid": "0000-0002-9087-526X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd6f99b76b62434e9deccbf84cb30d53.json"}}, {"family": "CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium", "given": "", "initials": ""}], "type": "comparative study", "published": "2017-01-00", "journal": {"volume": "49", "issn": "1546-1718", "issue": "1", "pages": "27-35", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 \u00d7 10 -15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 \u00d7 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 \u00d7 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 \u00d7 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.", "doi": "10.1038/ng.3725", "pmid": "27869829", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "ng.3725"}, {"db": "pmc", "key": "PMC5737772"}, {"db": "mid", "key": "NIHMS918949"}], "notes": [], "created": "2017-05-08T07:59:07.363Z", "modified": "2021-06-21T15:52:42.322Z"}]}