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| PMID |
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| TITLE |
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| Fine-mapping genomic loci refines bipolar disorder risk genes. |
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| ABSTRACT |
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| 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 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 ). |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| medline |
2024/02/26 06:46 |
| pubmed |
2024/02/26 06:45 |
| entrez |
2024/02/26 04:49 |
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| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Koromina M |
|
Koromina |
Maria |
M |
|
|
| Ravi A |
|
Ravi |
Ashvin |
A |
|
|
| Panagiotaropoulou G |
|
Panagiotaropoulou |
Georgia |
G |
|
|
| Schilder BM |
|
Schilder |
Brian M |
BM |
|
|
| Humphrey J |
|
Humphrey |
Jack |
J |
|
|
| Braun A |
|
Braun |
Alice |
A |
|
|
| Bidgeli T |
|
Bidgeli |
Tim |
T |
|
|
| Chatzinakos C |
|
Chatzinakos |
Chris |
C |
|
|
| Coombes B |
|
Coombes |
Brandon |
B |
|
|
| Kim J |
|
Kim |
Jaeyoung |
J |
|
|
| Liu X |
|
Liu |
Xiaoxi |
X |
|
|
| Terao C |
|
Terao |
Chikashi |
C |
|
|
| O 'Connell KS |
|
O 'Connell |
Kevin S |
KS |
|
|
| Adams M |
|
Adams |
Mark |
M |
|
|
| Adolfsson R |
|
Adolfsson |
Rolf |
R |
|
|
| Alda M |
|
Alda |
Martin |
M |
|
|
| Alfredsson L |
|
Alfredsson |
Lars |
L |
|
|
| Andlauer TFM |
|
Andlauer |
Till F M |
TFM |
|
|
| Andreassen OA |
|
Andreassen |
Ole A |
OA |
|
|
| Antoniou A |
|
Antoniou |
Anastasia |
A |
|
|
| Baune BT |
|
Baune |
Bernhard T |
BT |
|
|
| Bengesser S |
|
Bengesser |
Susanne |
S |
|
|
| Biernacka J |
|
Biernacka |
Joanna |
J |
|
|
| Boehnke M |
|
Boehnke |
Michael |
M |
|
|
| Bosch R |
|
Bosch |
Rosa |
R |
|
|
| Cairns M |
|
Cairns |
Murray |
M |
|
|
| Carr VJ |
|
Carr |
Vaughan J |
VJ |
|
|
| Casas M |
|
Casas |
Miquel |
M |
|
|
| Catts S |
|
Catts |
Stanley |
S |
|
|
| Cichon S |
|
Cichon |
Sven |
S |
|
|
| Corvin A |
|
Corvin |
Aiden |
A |
|
|
| Craddock N |
|
Craddock |
Nicholas |
N |
|
|
| Dafnas K |
|
Dafnas |
Konstantinos |
K |
|
|
| Dalkner N |
|
Dalkner |
Nina |
N |
|
|
| Dannlowski U |
|
Dannlowski |
Udo |
U |
|
|
| Degenhardt F |
|
Degenhardt |
Franziska |
F |
|
|
| Florio AD |
|
Florio |
Arianna Di |
AD |
|
|
| Dikeos D |
|
Dikeos |
Dimitris |
D |
|
|
| Fellendorf FT |
|
Fellendorf |
Frederike Tabea |
FT |
|
|
| Ferentinos P |
|
Ferentinos |
Panagiotis |
P |
|
|
| Forstner AJ |
|
Forstner |
Andreas J |
AJ |
|
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| Forty L |
|
Forty |
Liz |
L |
|
|
| Frye M |
|
Frye |
Mark |
M |
|
|
| Fullerton JM |
|
Fullerton |
Janice M |
JM |
|
|
| Gawlik M |
|
Gawlik |
Micha |
M |
|
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| Gizer IR |
|
Gizer |
Ian R |
IR |
|
|
| Gordon-Smith K |
|
Gordon-Smith |
Katherine |
K |
|
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| Green MJ |
|
Green |
Melissa J |
MJ |
|
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| Grigoroiu-Serbanescu M |
|
Grigoroiu-Serbanescu |
Maria |
M |
|
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| Guzman-Parra J |
|
Guzman-Parra |
José |
J |
|
|
| Hahn T |
|
Hahn |
Tim |
T |
|
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| Henskens F |
|
Henskens |
Frans |
F |
|
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| Hillert J |
|
Hillert |
Jan |
J |
|
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| Jablensky AV |
|
Jablensky |
Assen V |
AV |
|
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| Jones L |
|
Jones |
Lisa |
L |
|
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| Jones I |
|
Jones |
Ian |
I |
|
|
| Jonsson L |
|
Jonsson |
Lina |
L |
|
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| Kelsoe JR |
|
Kelsoe |
John R |
JR |
|
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| Kircher T |
|
Kircher |
Tilo |
T |
|
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| Kirov G |
|
Kirov |
George |
G |
|
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| Kittel-Schneider S |
|
Kittel-Schneider |
Sarah |
S |
|
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| Kogevinas M |
|
Kogevinas |
Manolis |
M |
|
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| Landén M |
|
Landén |
Mikael |
M |
|
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| Leboyer M |
|
Leboyer |
Marion |
M |
|
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| Lenger M |
|
Lenger |
Melanie |
M |
|
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| Lissowska J |
|
Lissowska |
Jolanta |
J |
|
|
| Lochner C |
|
Lochner |
Christine |
C |
|
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| Loughland C |
|
Loughland |
Carmel |
C |
|
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| MacIntyre D |
|
MacIntyre |
Donald |
D |
|
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| Martin NG |
|
Martin |
Nicholas G |
NG |
|
|
| Maratou E |
|
Maratou |
Eirini |
E |
|
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| Mathews CA |
|
Mathews |
Carol A |
CA |
|
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| Mayoral F |
|
Mayoral |
Fermin |
F |
|
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| McElroy SL |
|
McElroy |
Susan L |
SL |
|
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| McGregor NW |
|
McGregor |
Nathaniel W |
NW |
|
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| McIntosh A |
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McIntosh |
Andrew |
A |
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| McQuillin A |
|
McQuillin |
Andrew |
A |
|
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| Michie P |
|
Michie |
Patricia |
P |
|
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| Milanova V |
|
Milanova |
Vihra |
V |
|
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| Mitchell PB |
|
Mitchell |
Philip B |
PB |
|
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| Moutsatsou P |
|
Moutsatsou |
Paraskevi |
P |
|
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| Mowry B |
|
Mowry |
Bryan |
B |
|
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| Müller-Myhsok B |
|
Müller-Myhsok |
Bertram |
B |
|
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| Myers R |
|
Myers |
Richard |
R |
|
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| Nenadić I |
|
Nenadić |
Igor |
I |
|
|
| Nöthen MM |
|
Nöthen |
Markus M |
MM |
|
|
| O'Donovan C |
|
O'Donovan |
Claire |
C |
|
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| O'Donovan M |
|
O'Donovan |
Michael |
M |
|
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| Ophoff RA |
|
Ophoff |
Roel A |
RA |
|
|
| Owen MJ |
|
Owen |
Michael J |
MJ |
|
|
| Pantelis C |
|
Pantelis |
Chris |
C |
|
|
| Pato C |
|
Pato |
Carlos |
C |
|
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| Pato MT |
|
Pato |
Michele T |
MT |
|
|
| Patrinos GP |
|
Patrinos |
George P |
GP |
|
|
| Pawlak JM |
|
Pawlak |
Joanna M |
JM |
|
|
| Perlis RH |
|
Perlis |
Roy H |
RH |
|
|
| Porichi E |
|
Porichi |
Evgenia |
E |
|
|
| Posthuma D |
|
Posthuma |
Danielle |
D |
|
|
| Ramos-Quiroga JA |
|
Ramos-Quiroga |
Josep Antoni |
JA |
|
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| Reif A |
|
Reif |
Andreas |
A |
|
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| Reininghaus EZ |
|
Reininghaus |
Eva Z |
EZ |
|
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| Ribasés M |
|
Ribasés |
Marta |
M |
|
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| Rietschel M |
|
Rietschel |
Marcella |
M |
|
|
| Schall U |
|
Schall |
Ulrich |
U |
|
|
| Schulze TG |
|
Schulze |
Thomas G |
TG |
|
|
| Scott L |
|
Scott |
Laura |
L |
|
|
| Scott RJ |
|
Scott |
Rodney J |
RJ |
|
|
| Serretti A |
|
Serretti |
Alessandro |
A |
|
|
| Weickert CS |
|
Weickert |
Cynthia Shannon |
CS |
|
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| Smoller JW |
|
Smoller |
Jordan W |
JW |
|
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| Artigas MS |
|
Artigas |
Maria Soler |
MS |
|
|
| Stein DJ |
|
Stein |
Dan J |
DJ |
|
|
| Streit F |
|
Streit |
Fabian |
F |
|
|
| Toma C |
|
Toma |
Claudio |
C |
|
|
| Tooney P |
|
Tooney |
Paul |
P |
|
|
| Vieta E |
|
Vieta |
Eduard |
E |
|
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| Vincent JB |
|
Vincent |
John B |
JB |
|
|
| Waldman ID |
|
Waldman |
Irwin D |
ID |
|
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| Weickert T |
|
Weickert |
Thomas |
T |
|
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| Witt SH |
|
Witt |
Stephanie H |
SH |
|
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| Hong KS |
|
Hong |
Kyung Sue |
KS |
|
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| Ikeda M |
|
Ikeda |
Masashi |
M |
|
|
| Iwata N |
|
Iwata |
Nakao |
N |
|
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| Świątkowska B |
|
Świątkowska |
Beata |
B |
|
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| Won HH |
|
Won |
Hong-Hee |
HH |
|
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| Edenberg HJ |
|
Edenberg |
Howard J |
HJ |
|
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| Ripke S |
|
Ripke |
Stephan |
S |
|
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| Raj T |
|
Raj |
Towfique |
T |
|
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| Coleman JRI |
|
Coleman |
Jonathan R I |
JRI |
|
|
| Mullins N |
|
Mullins |
Niamh |
N |
|
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: |
| ISSUE: |
| TITLE: medRxiv : the preprint server for health sciences |
| ISOABBREVIATION: medRxiv |
| YEAR: 2024 |
| MONTH: Feb |
| DAY: 13 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: |
| ISSNTYPE: |
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| MEDLINE JOURNAL |
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| MEDLINETA: medRxiv |
| COUNTRY: United States |
| ISSNLINKING: |
| NLMUNIQUEID: 101767986 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Preprint |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| MESH HEADINGS |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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