{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang H"],"funding":["Reta Lila Weston Trust","NIA NIH HHS","CurePSP","Larry L. Hillblom Foundation","NINDS NIH HHS","Rainwater Charitable Foundation","National Institutes of Health","Michael J Fox Foundation","NIH HHS"],"pagination":["950-961"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12089919"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["40(5)"],"pubmed_abstract":["<h4>Background</h4>The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).<h4>Objective</h4>To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.<h4>Methods</h4>Utilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.<h4>Results</h4>We found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with ad"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells."],"pmcid":["PMC12089919"],"funding_grant_id":["U01 NS100610","U54‐ AG052427","R21 NS114764","P30-AG066511","R01 AG054008","R01 AG057234","R01 AG038791","3UH3NS104095","P01‐AG‐066597","U54-AG052427","P30 AG019610","RF1-AG074328","P01-AG-017586","P01-AG-066597","U54AG052427","P01‐AG‐017586","U19 AG063911-1","P30-AG072980","R01 NS086736","P01 AG084497","2R01AG038791-06A","R01 AG018023","R01AG073482","U01NS100610","U01 AG032984","U24-AG041689","U24 AG041689","UH3 NS104095","P01 AG019724","R01 AG032990","1R21NS114764-01A1","U24 NS072026","R01 AG071756","R01‐AG080001","U54‐AG052427","U54 NS100693","P30-AG072979","U54- AG052427","P30-AG072976","K01 AG070326","U01AG032984","K08-AG065519","R01AG071756","RF1 AG074328","P0544014","P50 AG016574","U54‐NS123746","K08‐AG065519","RF1 AG060961","U54-NS123746","R01 AG073482","P50 AG025711","P30 AG066514","U01 AG046139","2021-A-005-SUP YQS","P30AG062429","R01-AG080001","P30‐AG072979","K01‐AG070326","5UG3NS104095","P30‐AG072976","U19 AG063911‐1","U19 AG063911","R25 NS098999","U54 AG052427","P30‐AG072980","P30AG072980","P30 AG19610","R01AG038791","R01 AG074328","P01 AG003949","P30 AG062429","R25NS098999","UG3 NS104095","U24‐AG041689","P30 AG066511","R01 AG060961","R01 AG062348","R01 NS080820","P01 AG066597","K01-AG070326","U01 AG006786","P30 AG072980","P01 AG017586","P30‐AG066511","RF1‐AG074328","P30 AG072976","2021‐A‐005‐SUP YQS","U19AG063911","1R21NS114764‐01A1","R01 AG080001","P30 AG072979","P50 NS072187","P01 AG017216","K08 AG065519","2R01AG038791‐06A","U24AG041689","U54 NS123746","R01 NS095252"],"pubmed_authors":["Dickson DW","Rademakers R","Lees A","Jack CR","Muller U","Le Ber I","Wang H","de Yebenes JG","Schellenberg GD","Coppola G","Newell KL","Patil V","Ghetti BF","Litvan I","Burn D","Parker L","Galasko D","Stewart AJ","Dombroski BA","Molina-Porcel L","Donker Kaat L","Hazrati LN","Oertel WH","PSP Genetics Study Group","Williams DR","Hopfner F","Li C","Meller T","Brice A","Wang LS","Ludolph A","Valiente-Banuet L","White CL","Whitaker S","Dalgard C","Hoglinger GU","Grossman M","Golbe LI","Friedman JS","Compta Y","Corvol JC","Roeber S","Crary JF","Lee EB","Tucci A","Durr A","Seeley WW","Morris HR","Miller BL","Rabano-Gutierrez A","Si YQ","Koestler M","Van Deerlin VM","Tzeng JY","Randolph C","Rajput A","Naj AC","Hirman J","Roberson ED","Farrell K","Stamelou M","Cheng PL","Doody RS","Gearing M","Herms J","Gelpi E","Boxer AL","Lobach IV","Gold M","Goate AM","Geschwind DH","Dopper E","Gozes I","Lee WP","de Silva R","Schneider LS","Ross OA","Lorenzl S","Knopman DS","Troakes C","Pastor P","Lang AE","Arzberger T","Serrano GE","Morimoto BH","De Deyn PP","Van Swieten JC","Chang TS","Mclean C","Respondek G","Leung YY","Beach TG","Le Bastard N","Heuer HW"],"additional_accession":[]},"is_claimable":false,"name":"Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.","description":"<h4>Background</h4>The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).<h4>Objective</h4>To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.<h4>Methods</h4>Utilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.<h4>Results</h4>We found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with ad","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-01T14:56:10.44Z","creation":"2026-04-08T13:31:01.145Z"},"accession":"S-EPMC12089919","cross_references":{"pubmed":["40055946"],"doi":["10.1002/mds.30150"]}}