{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Koromina M"],"funding":["NIMH NIH HHS","NIH HHS"],"pagination":["1393-1403"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12229890"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["28(7)"],"pubmed_abstract":["Bipolar disorder is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 bipolar disorder risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci and prioritized 17 likely causal SNPs for bipolar disorder. We mapped these SNPs to genes and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci and results from rare variant exome sequencing in bipolar disorder. Convergent lines of evidence supported the roles of genes involved in neurotransmission and neurodevelopment, including SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CA"],"journal":["Nature neuroscience"],"pubmed_title":["Fine-mapping genomic loci refines bipolar disorder risk genes."],"pmcid":["PMC12229890"],"funding_grant_id":["R01 MH124839","S10 OD026880","S10 OD018522"],"pubmed_authors":["Hong KS","Lochner C","Martin NG","Vawter MP","Reininghaus EZ","Cichon S","Baune BT","Henskens F","Terao C","Humphrey J","Nievergelt CM","Vieta E","Gizer IR","Soler Artigas M","Kirov G","Leboyer M","Gordon-Smith K","Corvin A","Mitchell PB","Won HH","Posthuma D","Muller-Myhsok B","Scott RJ","Hahn T","McGregor NW","Pantelis C","Perlis RH","Alda M","Kittel-Schneider S","Forty L","Witt SH","Jablensky AV","Guzman-Parra J","Kim J","Nenadic I","Ribases M","Moutsatsou P","Bengesser S","Coombes BJ","Adams MJ","Biernacka J","Ferentinos P","Waldman ID","Bigdeli T","Landen M","Loughland C","Casas M","Fullerton JM","Myers RM","Cairns MJ","McElroy SL","Kogevinas M","Weickert T","Chatzinakos C","Boehnke M","Vincent JB","Mowry B","Schulze TG","Schofield PR","Toma C","Stein DJ","Maratou E","Dannlowski U","Patrinos GP","Reif A","Gawlik M","Kelsoe JR","O'Connell KS","Pato C","Weickert CS","Coleman JRI","Rietschel M","Jonsson L","Nothen MM","Smoller JW","Lenger M","Schall U","Andreassen OA","Panagiotaropoulou G","Carr VJ","Ravi A","Streit F","McIntosh A","Braun A","Grigoroiu-Serbanescu M","Nurnberger J","Pawlak JM","Ophoff RA","Di Florio A","Schilder BM","Swiatkowska B","'Donovan MO","Porichi E","Owen MJ","Mullins N","Jones I","Bosch R","Mathews CA","Ikeda M","Jones L","Serretti A","Alfredsson L","Tooney P","Edenberg HJ","Catts S","Scott L","Ripke S","Liu X","Antoniou A","Dafnas K","Forstner AJ","Frye M","Andlauer TFM","Adolfsson R","Dalkner N","Degenhardt F","Hillert J","Raj T","Dikeos D","'Donovan CO","Ramos-Quiroga JA","Iwata N","McQuillin A","Mayoral F","Michie P","Green MJ","Craddock N","Pato MT","Fellendorf FT","Koromina M","Lissowska J","Kircher T","MacIntyre DJ"],"additional_accession":[]},"is_claimable":false,"name":"Fine-mapping genomic loci refines bipolar disorder risk genes.","description":"Bipolar disorder is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 bipolar disorder risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci and prioritized 17 likely causal SNPs for bipolar disorder. We mapped these SNPs to genes and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci and results from rare variant exome sequencing in bipolar disorder. Convergent lines of evidence supported the roles of genes involved in neurotransmission and neurodevelopment, including SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CA","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-06-05T22:18:05.647Z","creation":"2026-05-22T03:15:21.879Z"},"accession":"S-EPMC12229890","cross_references":{"pubmed":["40562893"],"doi":["10.1038/s41593-025-01998-z"]}}