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Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions\/deletions (indels) and structural variants (SVs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>In this study, we performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), indels, and SVs, in a cohort of 1,718 cases and 2,944 controls of European ancestry. Of the 1,718 PSP individuals, 1,441 were autopsy-confirmed and 277 were clinically diagnosed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our analysis of common SNVs and indels confirmed known genetic loci at\n                      <jats:italic>MAPT<\/jats:italic>\n                      ,\n                      <jats:italic>MOBP<\/jats:italic>\n                      , S\n                      <jats:italic>TX6<\/jats:italic>\n                      ,\n                      <jats:italic>SLCO1A2<\/jats:italic>\n                      ,\n                      <jats:italic>DUSP10<\/jats:italic>\n                      , and\n                      <jats:italic>SP1<\/jats:italic>\n                      , and further uncovered novel signals in\n                      <jats:italic>APOE<\/jats:italic>\n                      ,\n                      <jats:italic>FCHO1\/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1<\/jats:italic>\n                      . Notably, in contrast to Alzheimer\u2019s disease (AD), we observed the\n                      <jats:italic>APOE<\/jats:italic>\n                      \u03b52 allele to be the risk allele in PSP. Analysis of rare SNVs and indels identified significant association in\n                      <jats:italic>ZNF592<\/jats:italic>\n                      and further gene network analysis identified a module of neuronal genes dysregulated in PSP. Moreover, seven common SVs associated with PSP were observed in the H1\/H2 haplotype region (17q21.31) and other loci, including\n                      <jats:italic>IGH<\/jats:italic>\n                      ,\n                      <jats:italic>PCMT1<\/jats:italic>\n                      ,\n                      <jats:italic>CYP2A13<\/jats:italic>\n                      , and\n                      <jats:italic>SMCP<\/jats:italic>\n                      . In the H1\/H2 haplotype region, there is a burden of rare deletions and duplications (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20096.73\u2009\u00d7\u200910\n                      <jats:sup>\u20133<\/jats:sup>\n                      ) in PSP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Through WGS, we significantly enhanced our understanding of the genetic basis of PSP, providing new targets for exploring disease mechanisms and therapeutic interventions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13024-024-00747-3","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T11:02:40Z","timestamp":1723806160000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Whole-genome sequencing 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Gesine Respondek is now employed by Roche (Hoffmann-La Roche, Basel, Switzerland) since 2021. Her affiliation whilst completing her contribution to this manuscript was German Center for Neurodegenerative Diseases (DZNE), Munich, Germany. Thomas G Beach is a consultant for Aprinoia Therapeutics and a Scientific Advisor and stock option holder for Vivid Genomics. Huw Morris is employed by UCL. In the last 12 months he reports paid consultancy from Roche, Aprinoia, AI Therapeutics and Amylyx; lecture fees\/honoraria\u2014BMJ, Kyowa Kirin, Movement Disorders Society. Huw Morris is a co-applicant on a patent application related to C9ORF72\u2014Method for diagnosing a neurodegenerative disease (PCT\/GB2012\/052140). Giovanni Coppola is currently an employee of Regeneron Pharmaceuticals. Alison Goate serves on the SAB for Genentech and Muna Therapeutics.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"61"}}