{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T09:07:43Z","timestamp":1747300063989,"version":"3.37.3"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T00:00:00Z","timestamp":1677024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Mary Oakley Foundation"},{"DOI":"10.13039\/100016608","name":"Rainwater Charitable Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016608","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH-NINDS U54 NS123985","P30 AG062422","R01 AG057234","R01 AG062588"],"award-info":[{"award-number":["NIH-NINDS U54 NS123985","P30 AG062422","R01 AG057234","R01 AG062588"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"MULTI-PARTNER CONSORTIUM TO EXPAND DEMENTIA RESEARCH IN LATIN AMERICA","award":["SG-20-725707","R01 AG057234"],"award-info":[{"award-number":["SG-20-725707","R01 AG057234"]}]},{"name":"ANID\/PIA\/ANILLOS","award":["ACT210096"],"award-info":[{"award-number":["ACT210096"]}]},{"name":"ANID\/FONDECYT Regular","award":["1210622"],"award-info":[{"award-number":["1210622"]}]},{"name":"ANID\/FONDEF IDEA","award":["ID22I10029","ID20I10152"],"award-info":[{"award-number":["ID22I10029","ID20I10152"]}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["GNT1102821"],"award-info":[{"award-number":["GNT1102821"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Frontotemporal dementia (FTD) has a complex genetic etiology, where the precise mechanisms underlying the selective vulnerability of brain regions remain unknown. We leveraged summary-based data from genome-wide association studies (GWAS) and performed LD score regression to estimate pairwise genetic correlations between FTD risk and cortical brain imaging. Then, we isolated specific genomic loci with a shared etiology between FTD and brain structure. We also performed functional annotation, summary-data-based Mendelian randomization for eQTL using human peripheral blood and brain tissue data, and evaluated the gene expression in mice targeted brain regions to better understand the dynamics of the FTD candidate genes.<\/jats:p>\n               <jats:p>Pairwise genetic correlation estimates between FTD and brain morphology measures were high but not statistically significant. We identified 5 brain regions with a strong genetic correlation (rg\u2009&amp;gt;\u20090.45) with FTD risk. Functional annotation identified 8 protein-coding genes. Building upon these findings, we show in a mouse model of FTD that cortical N-ethylmaleimide sensitive factor (NSF) expression decreases with age. Our results highlight the molecular and genetic overlap between brain morphology and higher risk for FTD, specifically for the right inferior parietal surface area and right medial orbitofrontal cortical thickness. In addition, our findings implicate NSF gene expression in the etiology of FTD.<\/jats:p>","DOI":"10.1093\/cercor\/bhad049","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T02:00:01Z","timestamp":1677117601000},"page":"7428-7435","source":"Crossref","is-referenced-by-count":3,"title":["Genetic overlap between cortical brain morphometry and frontotemporal dementia risk"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5442-9211","authenticated-orcid":false,"given":"Santiago","family":"Diaz-Torres","sequence":"first","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Mental Health & Neuroscience Program, , Brisbane, QLD , Australia"},{"name":"The University of Queensland School of Biomedical Sciences, Faculty of Medicine, , Brisbane, QLD , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Ogonowski","sequence":"additional","affiliation":[{"name":"Latin American Brain Health Institute (BrainLat), Universidad Adolfo Ib\u00e1\u00f1ez , Santiago , Chile"},{"name":"Universidad de San Andr\u00e9s Centro de Neurociencias Cognitivas (CNC), , Buenos Aires , Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis M","family":"Garc\u00eda-Mar\u00edn","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Mental Health & Neuroscience Program, , Brisbane, QLD , Australia"},{"name":"The University of Queensland School of Biomedical Sciences, Faculty of Medicine, , Brisbane, QLD , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luke W","family":"Bonham","sequence":"additional","affiliation":[{"name":"University of California Memory and Aging Center, , San Francisco, CA , United States"},{"name":"University of California Department of Radiology and Biomedical Imaging, , San Francisco, CA , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Duran-Aniotz","sequence":"additional","affiliation":[{"name":"Latin American Brain Health Institute (BrainLat), Universidad Adolfo Ib\u00e1\u00f1ez , Santiago , Chile"},{"name":"Universidad Adolfo Ibanez School of Psychology, Center for Social and Cognitive Neuroscience (CSCN), , Santiago , Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer S","family":"Yokoyama","sequence":"additional","affiliation":[{"name":"University of California Memory and Aging Center, , San Francisco, CA , United States"},{"name":"University of California Department of Radiology and Biomedical Imaging, , San Francisco, CA , United States"},{"name":"Weill Institute of Neurosciences, University of California Department of Neurology, , San Francisco, CA , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel E","family":"Renter\u00eda","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Mental Health & Neuroscience Program, , Brisbane, QLD , Australia"},{"name":"The University of Queensland School of Biomedical Sciences, Faculty of Medicine, , Brisbane, QLD , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,2,22]]},"reference":[{"key":"2023061506420072000_ref1","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.neuroimage.2017.10.034","article-title":"Image processing and quality control for the first 10,000 brain imaging datasets from UK Biobank","volume":"166","author":"Alfaro-Almagro","year":"2018","journal-title":"NeuroImage"},{"key":"2023061506420072000_ref2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13024-015-0066-z","article-title":"LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase 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