{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:24:25Z","timestamp":1792589065134,"version":"4.5.0"},"reference-count":77,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health, USA","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Commun"],"DOI":"10.1038\/s41467-024-53689-1","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T12:02:53Z","timestamp":1730721773000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Genetic risk factors underlying white matter hyperintensities and cortical atrophy"],"prefix":"10.1038","volume":"15","author":[{"given":"Yash","family":"Patel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7353-5178","authenticated-orcid":false,"given":"Jean","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2316-058X","authenticated-orcid":false,"given":"Eeva","family":"Sliz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8141-1543","authenticated-orcid":false,"given":"Aniket","family":"Mishra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Hofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hema Sekhar Reddy","family":"Rajula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6894-1320","authenticated-orcid":false,"given":"Ruiqi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5401-852X","authenticated-orcid":false,"given":"Frauke","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5307-6936","authenticated-orcid":false,"given":"Katrin","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Riedl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7752-9971","authenticated-orcid":false,"given":"Jing","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"V\u00f6lzke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1884-5784","authenticated-orcid":false,"given":"Robin","family":"B\u00fclow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5689-3448","authenticated-orcid":false,"given":"Uwe","family":"V\u00f6lker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Frenzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4383-5043","authenticated-orcid":false,"given":"Katharina","family":"Wittfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Van der Auwera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas H.","family":"Mosley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Bouteloup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0829-7817","authenticated-orcid":false,"given":"Jean-Charles","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Ch\u00eane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2442-4476","authenticated-orcid":false,"given":"Carole","family":"Dufouil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6517-2984","authenticated-orcid":false,"given":"Christophe","family":"Tzourio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Mangin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca F.","family":"Gottesman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0677-8158","authenticated-orcid":false,"given":"Myriam","family":"Fornage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhold","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3658-1375","authenticated-orcid":false,"given":"Qiong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9054-6688","authenticated-orcid":false,"given":"Veronica","family":"Witte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4059-1779","authenticated-orcid":false,"given":"Markus","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Loeffler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3403-2313","authenticated-orcid":false,"given":"Gennady V.","family":"Roshchupkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0372-8585","authenticated-orcid":false,"given":"M. Arfan","family":"Ikram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans J.","family":"Grabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6135-2622","authenticated-orcid":false,"given":"Sudha","family":"Seshadri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8675-7968","authenticated-orcid":false,"given":"Stephanie","family":"Debette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1495-9338","authenticated-orcid":false,"given":"Tomas","family":"Paus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7784-1380","authenticated-orcid":false,"given":"Zdenka","family":"Pausova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,4]]},"reference":[{"key":"53689_CR1","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/S1474-4422(19)30079-1","volume":"18","author":"JM Wardlaw","year":"2019","unstructured":"Wardlaw, J. M., Smith, C. & Dichgans, M. Small vessel disease: mechanisms and clinical implications. Lancet Neurol. 18, 684\u2013696 (2019).","journal-title":"Lancet Neurol."},{"key":"53689_CR2","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/s41582-018-0014-y","volume":"14","author":"A Ter Telgte","year":"2018","unstructured":"Ter Telgte, A. et al. Cerebral small vessel disease: from a focal to a global perspective. Nat. Rev. Neurol. 14, 387\u2013398 (2018).","journal-title":"Nat. Rev. Neurol."},{"key":"53689_CR3","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.114.001140","volume":"4","author":"JM Wardlaw","year":"2015","unstructured":"Wardlaw, J. M., Vald\u00e9s Hern\u00e1ndez, M. C. & Mu\u00f1oz-Maniega, S. What are White Matter Hyperintensities Made of? J. Am. Heart Assoc. 4, e001140 (2015).","journal-title":"J. Am. Heart Assoc."},{"key":"53689_CR4","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1001\/jamaneurol.2018.3122","volume":"76","author":"S Debette","year":"2019","unstructured":"Debette, S., Schilling, S., Duperron, M.-G., Larsson, S. C. & Markus, H. S. Clinical significance of magnetic resonance imaging markers of vascular brain injury: a systematic review and meta-analysis. JAMA Neurol. 76, 81\u201394 (2019).","journal-title":"JAMA Neurol."},{"key":"53689_CR5","doi-asserted-by":"publisher","first-page":"e2412824","DOI":"10.1001\/jamanetworkopen.2024.12824","volume":"7","author":"M Sargurupremraj","year":"2024","unstructured":"Sargurupremraj, M. et al. Genetic complexities of cerebral small vessel disease, blood pressure, and dementia. JAMA Netw. Open 7, e2412824 (2024).","journal-title":"JAMA Netw. Open"},{"key":"53689_CR6","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-19111-2","volume":"11","author":"M Sargurupremraj","year":"2020","unstructured":"Sargurupremraj, M. et al. Cerebral small vessel disease genomics and its implications across the lifespan. Nat. Commun. 11, 6285 (2020).","journal-title":"Nat. Commun."},{"key":"53689_CR7","doi-asserted-by":"publisher","unstructured":"Debette, S. & Markus, H. The clinical importance of white matter hyperintensities on brain magnetic resonance imaging: systematic review and meta-analysis. Bmj 341, https:\/\/doi.org\/10.1136\/bmj.c3666 (2010).","DOI":"10.1136\/bmj.c3666"},{"key":"53689_CR8","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1001\/jama.2019.10551","volume":"322","author":"The SPRINT MIND Investigators for the SPRINT Research Group.","year":"2019","unstructured":"The SPRINT MIND Investigators for the SPRINT Research Group. Association ofintensive vs standard blood pressure control with cerebral white matter lesions. JAMA 322, 524\u2013534 (2019).","journal-title":"JAMA"},{"key":"53689_CR9","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1148\/radiol.2371041496","volume":"237","author":"AD Murray","year":"2005","unstructured":"Murray, A. D. et al. Brain white matter hyperintensities: Relative importance of vascular risk factors in nondemented elderly people. Radiology 237, 251\u2013257 (2005).","journal-title":"Radiology"},{"key":"53689_CR10","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1212\/WNL.0b013e318227b227","volume":"77","author":"S Debette","year":"2011","unstructured":"Debette, S. et al. Midlife vascular risk factor exposure accelerates structural brain aging and cognitive decline. Neurology 77, 461\u2013468 (2011).","journal-title":"Neurology"},{"key":"53689_CR11","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1212\/WNL.0000000000000837","volume":"83","author":"J Staals","year":"2014","unstructured":"Staals, J., Makin, S. D. J., Doubal, F. N., Dennis, M. S. & Wardlaw, J. M. Stroke subtype, vascular risk factors, and total MRI brain small-vessel disease burden. Neurology 83, 1228\u20131234 (2014).","journal-title":"Neurology"},{"key":"53689_CR12","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1093\/jb\/mvw037","volume":"160","author":"K Ito","year":"2016","unstructured":"Ito, K. & Enomoto, H. Retrograde transport of neurotrophic factor signaling: implications in neuronal development and pathogenesis. J. Biochem. 160, 77\u201385 (2016).","journal-title":"J. Biochem."},{"key":"53689_CR13","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1242\/jcs.184580","volume":"129","author":"N Yamashita","year":"2016","unstructured":"Yamashita, N., Yamane, M., Suto, F. & Goshima, Y. TrkA mediates retrograde semaphorin 3A signaling through plexin A4 to regulate dendritic branching. J. Cell Sci. 129, 1802\u20131814 (2016).","journal-title":"J. Cell Sci."},{"key":"53689_CR14","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1016\/j.nicl.2015.07.002","volume":"9","author":"C Lambert","year":"2015","unstructured":"Lambert, C. et al. Characterising the grey matter correlates of leukoaraiosis in cerebral small vessel disease. NeuroImage Clin. 9, 194\u2013205 (2015).","journal-title":"NeuroImage Clin."},{"key":"53689_CR15","doi-asserted-by":"publisher","first-page":"1136","DOI":"10.1093\/brain\/aww009","volume":"139","author":"C Lambert","year":"2016","unstructured":"Lambert, C. et al. Longitudinal patterns of leukoaraiosis and brain atrophy in symptomatic small vessel disease. Brain 139, 1136\u20131151 (2016).","journal-title":"Brain"},{"key":"53689_CR16","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1161\/STROKEAHA.114.007146","volume":"46","author":"AM Tuladhar","year":"2015","unstructured":"Tuladhar, A. M. et al. Relationship between white matter hyperintensities, cortical thickness, and cognition. Stroke 46, 425\u2013432 (2015).","journal-title":"Stroke"},{"key":"53689_CR17","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1161\/STROKEAHA.115.011229","volume":"47","author":"DA Dickie","year":"2016","unstructured":"Dickie, D. A. et al. Progression of white matter disease and cortical thinning are not related in older community-dwelling subjects. Stroke 47, 410\u2013416 (2016).","journal-title":"Stroke"},{"key":"53689_CR18","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1159\/000226117","volume":"28","author":"O Godin","year":"2009","unstructured":"Godin, O. et al. Association of white-matter lesions with brain atrophy markers: the three-city Dijon MRI study. Cerebrovasc. Dis. 28, 177\u2013184 (2009).","journal-title":"Cerebrovasc. Dis."},{"key":"53689_CR19","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1007\/s00415-006-0133-z","volume":"253","author":"R Rossi","year":"2006","unstructured":"Rossi, R. et al. Topographic correspondence between white matter hyperintensities and brain atrophy. J. Neurol. 253, 919\u2013927 (2006).","journal-title":"J. Neurol."},{"key":"53689_CR20","doi-asserted-by":"publisher","first-page":"834.e7","DOI":"10.1016\/j.neurobiolaging.2011.08.010","volume":"33","author":"CA Raji","year":"2012","unstructured":"Raji, C. A. et al. White matter lesions and brain gray matter volume in cognitively normal elders. Neurobiol. Aging 33, 834.e7\u201316 (2012).","journal-title":"Neurobiol. Aging"},{"key":"53689_CR21","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1161\/STROKEAHA.114.007847","volume":"46","author":"DS Knopman","year":"2015","unstructured":"Knopman, D. S. et al. Vascular imaging abnormalities and cognition. Stroke 46, 433\u2013440 (2015).","journal-title":"Stroke"},{"key":"53689_CR22","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.neurobiolaging.2017.12.006","volume":"64","author":"B Rizvi","year":"2018","unstructured":"Rizvi, B. et al. The effect of white matter hyperintensities on cognition is mediated by cortical atrophy. Neurobiol. Aging 64, 25\u201332 (2018).","journal-title":"Neurobiol. Aging"},{"key":"53689_CR23","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1177\/1747493019851291","volume":"15","author":"DA Dickie","year":"2020","unstructured":"Dickie, D. A. et al. Cortical thickness, white matter hyperintensities, and cognition after stroke. Int J. Stroke 15, 46\u201354 (2020).","journal-title":"Int J. Stroke"},{"key":"53689_CR24","doi-asserted-by":"publisher","first-page":"932","DOI":"10.1212\/WNL.0000000000008525","volume":"93","author":"EE Benarroch","year":"2019","unstructured":"Benarroch, E. E. Insular cortex: functional complexity and clinical correlations. Neurology 93, 932\u2013938 (2019).","journal-title":"Neurology"},{"key":"53689_CR25","doi-asserted-by":"publisher","first-page":"10649","DOI":"10.1523\/JNEUROSCI.0759-12.2012","volume":"32","author":"J Sepulcre","year":"2012","unstructured":"Sepulcre, J., Sabuncu, M. R., Yeo, T. B., Liu, H. & Johnson, K. A. Stepwise connectivity of the modal cortex reveals the multimodal organization of the human brain. J. Neurosci. 32, 10649\u201310661 (2012).","journal-title":"J. Neurosci."},{"key":"53689_CR26","doi-asserted-by":"publisher","first-page":"R580","DOI":"10.1016\/j.cub.2017.05.010","volume":"27","author":"N Gogolla","year":"2017","unstructured":"Gogolla, N. The insular cortex. Curr. Biol. 27, R580\u2013R586 (2017).","journal-title":"Curr. Biol."},{"key":"53689_CR27","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1038\/ng.3211","volume":"47","author":"BK Bulik-Sullivan","year":"2015","unstructured":"Bulik-Sullivan, B. K. et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291\u2013295 (2015).","journal-title":"Nat. Genet."},{"key":"53689_CR28","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1136\/jnnp.2006.113514","volume":"78","author":"A Rovelet\u2010Lecrux","year":"2007","unstructured":"Rovelet\u2010Lecrux, A. et al. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. J. Neurol. Neurosurg. Psychiatry 78, 1158 (2007).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"53689_CR29","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.1136\/jnnp.2008.161703","volume":"80","author":"K Kasuga","year":"2009","unstructured":"Kasuga, K. et al. Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. J. Neurol. Neurosurg. Psychiatry 80, 1050\u20131052 (2009).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"53689_CR30","doi-asserted-by":"publisher","first-page":"a024539","DOI":"10.1101\/cshperspect.a024539","volume":"7","author":"J TCW","year":"2017","unstructured":"TCW, J. & Goate, A. M. Genetics of \u03b2-Amyloid Precursor Protein in Alzheimer\u2019s Disease. Cold Spring Harb. Perspect. Med. 7, a024539 (2017).","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"53689_CR31","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1016\/j.devcel.2015.01.022","volume":"32","author":"R van der Kant","year":"2015","unstructured":"van der Kant, R. & Goldstein, L. S. B. Cellular functions of the amyloid precursor protein from development to dementia. Dev. Cell 32, 502\u2013515 (2015).","journal-title":"Dev. Cell"},{"key":"53689_CR32","doi-asserted-by":"publisher","first-page":"1782","DOI":"10.1212\/WNL.0000000000004569","volume":"89","author":"KB Casaletto","year":"2017","unstructured":"Casaletto, K. B. et al. Neurogranin, a synaptic protein, is associated with memory independent of Alzheimer biomarkers. Neurology 89, 1782\u20131788 (2017).","journal-title":"Neurology"},{"key":"53689_CR33","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1016\/j.clinbiochem.2015.05.015","volume":"48","author":"J Yang","year":"2015","unstructured":"Yang, J., Korley, F. K., Dai, M. & Everett, A. D. Serum neurogranin measurement as a biomarker of acute traumatic brain injury. Clin. Biochem. 48, 843\u2013848 (2015).","journal-title":"Clin. Biochem."},{"key":"53689_CR34","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1038\/s41586-019-1506-7","volume":"573","author":"RD Hodge","year":"2019","unstructured":"Hodge, R. D. et al. Conserved cell types with divergent features in human versus mouse cortex. Nature 573, 61\u201368 (2019).","journal-title":"Nature"},{"key":"53689_CR35","doi-asserted-by":"publisher","first-page":"1572","DOI":"10.1038\/s41588-022-01167-z","volume":"54","author":"MJ Zhang","year":"2022","unstructured":"Zhang, M. J. et al. Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data. Nat. Genet. 54, 1572\u20131580 (2022).","journal-title":"Nat. Genet."},{"key":"53689_CR36","doi-asserted-by":"crossref","unstructured":"Shin, J., Patel, Y., Parker, N., Paus, T. & Pausova, Z. Prediabetic HbA1c and Cortical Atrophy: Underlying Neurobiology. Diabetes Care 46, 2267\u20132272 (2023).","DOI":"10.2337\/dc23-1105"},{"key":"53689_CR37","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1038\/s41586-021-03941-1","volume":"598","author":"H Peng","year":"2021","unstructured":"Peng, H. et al. Morphological diversity of single neurons in molecularly defined cell types. Nature 598, 174\u2013181 (2021).","journal-title":"Nature"},{"key":"53689_CR38","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/nn.3917","volume":"18","author":"KD Harris","year":"2015","unstructured":"Harris, K. D. & Shepherd, G. M. The neocortical circuit: themes and variations. Nat. Neurosci. 18, 170\u2013181 (2015).","journal-title":"Nat. Neurosci."},{"key":"53689_CR39","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/s41588-023-01300-6","volume":"55","author":"N de Klein","year":"2023","unstructured":"de Klein, N. et al. Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases. Nat. Genet. 55, 377\u2013388 (2023).","journal-title":"Nat. Genet."},{"key":"53689_CR40","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1001\/jamapsychiatry.2020.2694","volume":"78","author":"Y Patel","year":"2021","unstructured":"Patel, Y. et al. Virtual histology of cortical thickness and shared neurobiology in 6 psychiatric disorders. JAMA Psychiatry 78, 47\u201363 (2021).","journal-title":"JAMA Psychiatry"},{"key":"53689_CR41","doi-asserted-by":"publisher","first-page":"eaaw9997","DOI":"10.1126\/science.aaw9997","volume":"366","author":"P Guedes-Dias","year":"2019","unstructured":"Guedes-Dias, P. & Holzbaur, E. L. Axonal transport: Driving synaptic function. Science 366, eaaw9997 (2019).","journal-title":"Science"},{"key":"53689_CR42","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1038\/nrn1788","volume":"6","author":"M Coleman","year":"2005","unstructured":"Coleman, M. Axon degeneration mechanisms: commonality amid diversity. Nat. Rev. Neurosci. 6, 889\u2013898 (2005).","journal-title":"Nat. Rev. Neurosci."},{"key":"53689_CR43","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/s41586-022-05473-8","volume":"613","author":"MI Kurki","year":"2023","unstructured":"Kurki, M. I. et al. FinnGen provides genetic insights from a well-phenotyped isolated population. Nature 613, 508\u2013518 (2023).","journal-title":"Nature"},{"key":"53689_CR44","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1161\/CIRCGENETICS.108.829747","volume":"2","author":"BM Psaty","year":"2009","unstructured":"Psaty, B. M. et al. Cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium: design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ. Cardiovasc. Genet. 2, 73\u201380 (2009).","journal-title":"Circ. Cardiovasc. Genet."},{"key":"53689_CR45","doi-asserted-by":"publisher","first-page":"e1001779","DOI":"10.1371\/journal.pmed.1001779","volume":"12","author":"C Sudlow","year":"2015","unstructured":"Sudlow, C. et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 12, e1001779 (2015).","journal-title":"PLoS Med."},{"key":"53689_CR46","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1016\/j.neuroimage.2012.01.021","volume":"62","author":"B Fischl","year":"2012","unstructured":"Fischl, B. FreeSurfer. Neuroimage 62, 774\u2013781 (2012).","journal-title":"Neuroimage"},{"key":"53689_CR47","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1016\/j.neuroimage.2006.01.021","volume":"31","author":"RS Desikan","year":"2006","unstructured":"Desikan, R. S. et al. An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest. Neuroimage 31, 968\u2013980 (2006).","journal-title":"Neuroimage"},{"key":"53689_CR48","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1038\/nprot.2014.071","volume":"9","author":"TW Winkler","year":"2014","unstructured":"Winkler, T. W. et al. Quality control and conduct of genome-wide association meta-analyses. Nat. Protoc. 9, 1192\u20131212 (2014).","journal-title":"Nat. Protoc."},{"key":"53689_CR49","doi-asserted-by":"publisher","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","volume":"26","author":"CJ Willer","year":"2010","unstructured":"Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190\u20132191 (2010).","journal-title":"Bioinformatics"},{"key":"53689_CR50","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1016\/j.ajhg.2011.04.014","volume":"88","author":"B Han","year":"2011","unstructured":"Han, B. & Eskin, E. Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am. J. Hum. Genet. 88, 586\u2013598 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"53689_CR51","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1038\/s41588-020-00713-x","volume":"52","author":"P Surendran","year":"2020","unstructured":"Surendran, P. et al. Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nat. Genet. 52, 1314\u20131332 (2020).","journal-title":"Nat. Genet."},{"key":"53689_CR52","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1038\/s41588-018-0058-3","volume":"50","author":"R Malik","year":"2018","unstructured":"Malik, R. et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat. Genet. 50, 524\u2013537 (2018).","journal-title":"Nat. Genet."},{"key":"53689_CR53","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1093\/hmg\/ddy327","volume":"28","author":"SL Pulit","year":"2019","unstructured":"Pulit, S. L. et al. Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum. Mol. Genet. 28, 166\u2013174 (2019).","journal-title":"Hum. Mol. Genet."},{"key":"53689_CR54","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1038\/s41588-018-0144-6","volume":"50","author":"P-R Loh","year":"2018","unstructured":"Loh, P.-R., Kichaev, G., Gazal, S., Schoech, A. P. & Price, A. L. Mixed-model association for biobank-scale datasets. Nat. Genet. 50, 906\u2013908 (2018).","journal-title":"Nat. Genet."},{"key":"53689_CR55","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1161\/CIRCRESAHA.117.312086","volume":"122","author":"P van der Harst","year":"2018","unstructured":"van der Harst, P. & Verweij, N. Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery Disease. Circ. Res. 122, 433\u2013443 (2018).","journal-title":"Circ. Res."},{"key":"53689_CR56","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/s41586-022-04434-5","volume":"604","author":"V Trubetskoy","year":"2022","unstructured":"Trubetskoy, V. et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 604, 502\u2013508 (2022).","journal-title":"Nature"},{"key":"53689_CR57","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1038\/s41588-018-0090-3","volume":"50","author":"NR Wray","year":"2018","unstructured":"Wray, N. R. et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat. Genet. 50, 668\u2013681 (2018).","journal-title":"Nat. Genet."},{"key":"53689_CR58","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1038\/s41588-021-00857-4","volume":"53","author":"N Mullins","year":"2021","unstructured":"Mullins, N. et al. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nat. Genet. 53, 817\u2013829 (2021).","journal-title":"Nat. Genet."},{"key":"53689_CR59","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/s41588-018-0311-9","volume":"51","author":"IE Jansen","year":"2019","unstructured":"Jansen, I. E. et al. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer\u2019s disease risk. Nat. Genet. 51, 404\u2013413 (2019).","journal-title":"Nat. Genet."},{"key":"53689_CR60","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1038\/s41588-018-0152-6","volume":"50","author":"JE Savage","year":"2018","unstructured":"Savage, J. E. et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nat. Genet. 50, 912\u2013919 (2018).","journal-title":"Nat. Genet."},{"key":"53689_CR61","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1038\/s41586-023-06592-6","volume":"622","author":"BB Sun","year":"2023","unstructured":"Sun, B. B. et al. Plasma proteomic associations with genetics and health in the UK Biobank. Nature 622, 329\u2013338 (2023).","journal-title":"Nature"},{"key":"53689_CR62","doi-asserted-by":"publisher","first-page":"e1004219","DOI":"10.1371\/journal.pcbi.1004219","volume":"11","author":"CA de Leeuw","year":"2015","unstructured":"de Leeuw, C. A., Mooij, J. M., Heskes, T. & Posthuma, D. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput. Biol. 11, e1004219 (2015).","journal-title":"PLoS Comput. Biol."},{"key":"53689_CR63","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1001\/jamapsychiatry.2020.1495","volume":"77","author":"N Parker","year":"2020","unstructured":"Parker, N. et al. Assessment of neurobiological mechanisms of cortical thinning during childhood and adolescence and their implications for psychiatric disorders. JAMA Psychiatry 77, 1127\u20131136 (2020).","journal-title":"JAMA Psychiatry"},{"key":"53689_CR64","first-page":"284","volume":"16","author":"G Yu","year":"2012","unstructured":"Yu, G., Wang, L.-G., Han, Y. & He, Q.-Y. clusterProfiler: an R package for comparing biological themes among gene clusters. J. Integr. Biol. 16, 284\u2013287 (2012).","journal-title":"J. Integr. Biol."},{"key":"53689_CR65","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1038\/nature11405","volume":"489","author":"MJ Hawrylycz","year":"2012","unstructured":"Hawrylycz, M. J. et al. An anatomically comprehensive atlas of the adult human brain transcriptome. Nature 489, 391\u2013399 (2012).","journal-title":"Nature"},{"key":"53689_CR66","doi-asserted-by":"publisher","first-page":"323","DOI":"10.3389\/fnins.2015.00323","volume":"9","author":"L French","year":"2015","unstructured":"French, L. & Paus, T. A FreeSurfer view of the cortical transcriptome generated from the Allen Human Brain Atlas. Front. Neurosci. 9, 323 (2015).","journal-title":"Front. Neurosci."},{"key":"53689_CR67","doi-asserted-by":"publisher","first-page":"3267","DOI":"10.1093\/cercor\/bhx197","volume":"28","author":"J Shin","year":"2018","unstructured":"Shin, J. et al. Cell-specific gene-expression profiles and cortical thickness in the human brain. Cereb. Cortex 28, 3267\u20133277 (2018).","journal-title":"Cereb. Cortex"},{"key":"53689_CR68","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.55851","volume":"9","author":"PN Timshel","year":"2020","unstructured":"Timshel, P. N., Thompson, J. J. & Pers, T. H. Genetic mapping of etiologic brain cell types for obesity. Elife 9, e55851 (2020).","journal-title":"Elife"},{"key":"53689_CR69","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","volume":"57","author":"Y Benjamini","year":"1995","unstructured":"Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J. R. Stat. Soc. Ser. B Methodol. 57, 289\u2013300 (1995).","journal-title":"J. R. Stat. Soc. Ser. B Methodol."},{"key":"53689_CR70","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09718-5","volume":"10","author":"T Ge","year":"2019","unstructured":"Ge, T., Chen, C.-Y., Ni, Y., Feng, Y.-C. A. & Smoller, J. W. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat. Commun. 10, 1776 (2019).","journal-title":"Nat. Commun."},{"key":"53689_CR71","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.34408","volume":"7","author":"G Hemani","year":"2018","unstructured":"Hemani, G. et al. The MR-Base platform supports systematic causal inference across the human phenome. Elife 7, e34408 (2018).","journal-title":"Elife"},{"key":"53689_CR72","doi-asserted-by":"publisher","first-page":"e1007081","DOI":"10.1371\/journal.pgen.1007081","volume":"13","author":"G Hemani","year":"2017","unstructured":"Hemani, G., Tilling, K. & Davey Smith, G. Orienting the causal relationship between imprecisely measured traits using GWAS summary data. PLoS Genet. 13, e1007081 (2017).","journal-title":"PLoS Genet."},{"key":"53689_CR73","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giz082","volume":"8","author":"SW Choi","year":"2019","unstructured":"Choi, S. W. & O\u2019Reilly, P. F. PRSice-2: Polygenic Risk Score software for biobank-scale data. Gigascience 8, giz082 (2019).","journal-title":"Gigascience"},{"key":"53689_CR74","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giad043","volume":"12","author":"SW Choi","year":"2022","unstructured":"Choi, S. W., Mak, T. S. H., Hoggart, C. J. & O\u2019Reilly, P. F. EraSOR: a software tool to eliminate inflation caused by sample overlap in polygenic score analyses. Gigascience 12, giad043 (2022).","journal-title":"Gigascience"},{"key":"53689_CR75","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1002\/gepi.22339","volume":"44","author":"BJ Coombes","year":"2020","unstructured":"Coombes, B. J., Ploner, A., Bergen, S. E. & Biernacka, J. M. A principal component approach to improve association testing with polygenic risk scores. Genet. Epidemiol. 44, 676\u2013686 (2020).","journal-title":"Genet. Epidemiol."},{"key":"53689_CR76","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1177\/2515245920928009","volume":"3","author":"AM Mowinckel","year":"2020","unstructured":"Mowinckel, A. M. & Vidal-Pi\u00f1eiro, D. Visualization of brain statistics with R packages ggseg and ggseg3d. Adv. Methods Pract. Psychol. Sci. 3, 466\u2013483 (2020).","journal-title":"Adv. Methods Pract. Psychol. Sci."},{"key":"53689_CR77","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1038\/s41591-021-01382-x","volume":"27","author":"O Hansson","year":"2021","unstructured":"Hansson, O. Biomarkers for neurodegenerative diseases. Nat. Med. 27, 954\u2013963 (2021).","journal-title":"Nat. Med."}],"container-title":["Nature Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41467-024-53689-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41467-024-53689-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41467-024-53689-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T15:02:11Z","timestamp":1730991731000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41467-024-53689-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,4]]},"references-count":77,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["53689"],"URL":"https:\/\/doi.org\/10.1038\/s41467-024-53689-1","relation":{},"ISSN":["2041-1723"],"issn-type":[{"value":"2041-1723","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,4]]},"assertion":[{"value":"1 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"H.J.G. has received travel grants and speaker honoraria from Neuraxpharm, Servier, Indorsia and Janssen Cilag. All the other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"9517"}}