TY  - INPR
A1  - Koromina, Maria
A1  - Ravi, Ashvin
A1  - Panagiotaropoulou, Georgia
A1  - Schilder, Brian M.
A1  - Humphrey, Jack
A1  - Braun, Alice
A1  - Bidgeli, Tim
A1  - Chatzinakos, Chris
A1  - Coombes, Brandon
A1  - Kim, Jaeyoung
A1  - Liu, Xiaoxi
A1  - Terao, Chikashi
A1  - O'Connell, Kevin S.
A1  - Adams, Mark
A1  - Adolfsson, Rolf
A1  - Alda, Martin
A1  - Alfredsson, Lars
A1  - Andlauer, Till
A1  - Andreassen, Ole A.
A1  - Antoniou, Anastasia
A1  - Baune, Bernhard T.
A1  - Bengesser, Susanne
A1  - Biernacka, Joanna
A1  - Boehnke, Michael
A1  - Bosch, Rosa
A1  - Cairns, Murray
A1  - Carr, Vaughan J.
A1  - Casas Brugué, Miquel
A1  - Catts, Stanley
A1  - Cichon, Sven
A1  - Corvin, Aiden
A1  - Craddock, Nicholas
A1  - Dafnas, Konstantinos
A1  - Dalkner, Nina
A1  - Dannlowski, Udo
A1  - Degenhardt, Franziska
A1  - Di Florio, Arianna
A1  - Dikeos, Dimitris
A1  - Fellendorf, Frederike Tabea
A1  - Ferentinos, Panagiotis
A1  - Forstner, Andreas Josef
A1  - Forty, Liz
A1  - Frye, Mark
A1  - Fullerton, Janice M.
A1  - Gawlik, Micha
A1  - Gizer, Ian R.
A1  - Gordon-Smith, Katherine
A1  - Green, Melissa J.
A1  - Grigoroiu-Serbanescu, Maria
A1  - Guzman-Parra, José
A1  - Hahn, Tim
A1  - Henskens, Frans
A1  - Hillert, Jan
A1  - Jablensky, Assen V.
A1  - Jones, Lisa
A1  - Jones, Ian
A1  - Jonsson, Lina
A1  - Kelsoe, John R.
A1  - Kircher, Tilo
A1  - Kirov, George
A1  - Kittel-Schneider, Sarah
A1  - Kogevinas, Manolis
A1  - Landén, Mikael
A1  - Leboyer, Marion
A1  - Lenger, Melanie
A1  - Lissowska, Jolanta
A1  - Lochner, Christine
A1  - Loughland, Carmel
A1  - MacIntyre, Donald
A1  - Martin, Nicholas G.
A1  - Maratou, Eirini
A1  - Mathews, Carol A.
A1  - Mayoral, Fermı́n
A1  - McElroy, Susan L.
A1  - McGregor, Nathaniel W.
A1  - McIntosh, Andrew M.
A1  - McQuillin, Andrew
A1  - Michie, Patricia
A1  - Milanova, Vihra
A1  - Mitchell, Philip B.
A1  - Moutsatsou, Paraskevi
A1  - Mowry, Bryan
A1  - Müller-Myhsok, Bertram
A1  - Myers, Richard M.
A1  - Nenadić, Igor
A1  - Nöthen, Markus Maria
A1  - O'Donovan, Claire
A1  - O'Donovan, Michael
A1  - Ophoff, Roel André
A1  - Owen, Michael J.
A1  - Pantelis, Christos
A1  - Pato, Carlos
A1  - Pato, Michele T.
A1  - Patrinos, George P.
A1  - Pawlak, Joanna M.
A1  - Perlis, Roy H.
A1  - Porichi, Evgenia
A1  - Posthuma, Danielle
A1  - Ramos-Quiroga, Josep Antoni
A1  - Reif, Andreas
A1  - Reininghaus, Eva Z.
A1  - Ribasés, Marta
A1  - Rietschel, Marcella
A1  - Schall, Ulrich
A1  - Schulze, Thomas Gerd
A1  - Scott, Laura J.
A1  - Scott, Rodney J.
A1  - Serretti, Alessandro
A1  - Shannon Weickert, Cynthia
A1  - Smoller, Jordan W.
A1  - Soler Artigas, Marı́a
A1  - Stein, Dan J.
A1  - Streit, Fabian
A1  - Toma, Claudio
A1  - Tooney, Paul
A1  - Vieta, Eduard
A1  - Vincent, John B.
A1  - Waldman, Irwin D.
A1  - Weickert, Thomas
A1  - Witt, Stephanie H.
A1  - Hong, Kyung Sue
A1  - Ikeda, Masashi
A1  - Iwata, Nakao
A1  - Świątkowska, Beata
A1  - Won, Hong-Hee
A1  - Edenberg, Howard J.
A1  - Ripke, Stephan
A1  - Raj, Towfique
A1  - Coleman, Jonathan R. I.
A1  - Mullins, Niamh
T1  - Fine-mapping genomic loci refines bipolar disorder risk genes
T2  - medRxiv
N2  - Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD 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 22 likely causal SNPs for BD. 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 BD. Convergent lines of evidence supported the roles of SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CACNA1B, TUBBP5, PLCB3, PRDX5, KCNK4, AP001453.3, TRPT1, FKBP2, DNAJC4, RASGRP1, FURIN, FES, YWHAE, DPH1, GSDMB, MED24, THRA, EEF1A2, and KCNQ2 in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance and transferability of BD polygenic risk scores across ancestrally diverse populations, and present a high-throughput fine-mapping pipeline (https://github.com/mkoromina/SAFFARI).
Y1  - 2024
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/83063
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-830635
IS  - 2024.02.12.24302716 Version 1
CY  - medRxiv
ER  -