Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

FinnGen; Joel T. Rämö; Tuomo Kiiskinen; Richard Seist; Kristi Krebs; Masahiro Kanai; Juha Karjalainen; Mitja Kurki; Eija Hämäläinen; Paavo S. Häppölä; Aki S. Havulinna; Heidi Hautakangas; Reedik Mägi; Priit Palta; Tonu Esko; Andres Metspalu; Matti J. Pirinen; Konrad J. Karczewski; Samuli Ripatti; Lili M. Milani; Konstantina Stankovic; Antti Mäkitie; Mark Daly; Aarno Palotie

doi:10.1038/s41467-022-32936-3

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

FinnGen, Joel T. Rämö, Tuomo Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo S. Häppölä, Aki S. Havulinna, Heidi Hautakangas, Reedik Mägi, Priit Palta, Tonu Esko, Andres Metspalu, Matti J. Pirinen, Konrad J. Karczewski, Samuli Ripatti, Lili M. MilaniKonstantina Stankovic, Antti Mäkitie, Mark Daly, Aarno Palotie

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	157
Tidskrift	Nature Communications
Volym	14
Nummer	1
Antal sidor	14
ISSN	2041-1723
DOI	https://doi.org/10.1038/s41467-022-32936-3
Status	Publicerad - 18 jan. 2023
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1038/s41467-022-32936-3

s41467-022-32936-3Slutlig publicerad version, 1,59 MBLicens: CC BY

Citera det här

FinnGen, Rämö, J. T., Kiiskinen, T., Seist, R., Krebs, K., Kanai, M., Karjalainen, J., Kurki, M., Hämäläinen, E., Häppölä, P. S., Havulinna, A. S., Hautakangas, H., Mägi, R., Palta, P., Esko, T., Metspalu, A., Pirinen, M. J., Karczewski, K. J., Ripatti, S., ... Palotie, A. (2023). Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature Communications, 14(1), [157]. https://doi.org/10.1038/s41467-022-32936-3

@article{99f928e05ebc4b3e8ea43250e33dc330,

title = "Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure",

keywords = "Ld score regression, Gene-expression, Temporal bone, Otic capsule, Inner-ear, Mutations, Inhibition, Col1a1, Tgfb1, Glycoprotein/fetuin, 1184 Genetics, developmental biology, physiology",

author = "FinnGen and R{\"a}m{\"o}, {Joel T.} and Tuomo Kiiskinen and Richard Seist and Kristi Krebs and Masahiro Kanai and Juha Karjalainen and Mitja Kurki and Eija H{\"a}m{\"a}l{\"a}inen and H{\"a}pp{\"o}l{\"a}, {Paavo S.} and Havulinna, {Aki S.} and Heidi Hautakangas and Reedik M{\"a}gi and Priit Palta and Tonu Esko and Andres Metspalu and Pirinen, {Matti J.} and Karczewski, {Konrad J.} and Samuli Ripatti and Milani, {Lili M.} and Konstantina Stankovic and Antti M{\"a}kitie and Mark Daly and Aarno Palotie",

year = "2023",

month = jan,

day = "18",

doi = "10.1038/s41467-022-32936-3",

language = "English",

volume = "14",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

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FinnGen, Rämö, JT , Kiiskinen, T, Seist, R, Krebs, K, Kanai, M, Karjalainen, J, Kurki, M, Hämäläinen, E , Häppölä, PS , Havulinna, AS , Hautakangas, H, Mägi, R, Palta, P, Esko, T, Metspalu, A, Pirinen, MJ, Karczewski, KJ, Ripatti, S, Milani, LM, Stankovic, K, Mäkitie, A , Daly, M & Palotie, A 2023, 'Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure', Nature Communications, vol. 14, nr. 1, 157. https://doi.org/10.1038/s41467-022-32936-3

TY - JOUR

T1 - Genome-wide screen of otosclerosis in population biobanks

T2 - 27 loci and shared associations with skeletal structure

AU - FinnGen

AU - Rämö, Joel T.

AU - Kiiskinen, Tuomo

AU - Seist, Richard

AU - Krebs, Kristi

AU - Kanai, Masahiro

AU - Karjalainen, Juha

AU - Kurki, Mitja

AU - Hämäläinen, Eija

AU - Häppölä, Paavo S.

AU - Havulinna, Aki S.

AU - Hautakangas, Heidi

AU - Mägi, Reedik

AU - Palta, Priit

AU - Esko, Tonu

AU - Metspalu, Andres

AU - Pirinen, Matti J.

AU - Karczewski, Konrad J.

AU - Ripatti, Samuli

AU - Milani, Lili M.

AU - Stankovic, Konstantina

AU - Mäkitie, Antti

AU - Daly, Mark

AU - Palotie, Aarno

PY - 2023/1/18

Y1 - 2023/1/18

KW - Ld score regression

KW - Gene-expression

KW - Temporal bone

KW - Otic capsule

KW - Inner-ear

KW - Mutations

KW - Inhibition

KW - Col1a1

KW - Tgfb1

KW - Glycoprotein/fetuin

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41467-022-32936-3

DO - 10.1038/s41467-022-32936-3

M3 - Article

C2 - 36653343

VL - 14

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

IS - 1

M1 - 157

ER -