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; Mikko Arvas; Kati Hyvärinen; Jarmo Ritari; Jukka Partanen

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, Mikko Arvas, Kati Hyvärinen, Jarmo Ritari, Jukka Partanen

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	157
Journal	Nature Communications
Volume	14
Issue number	1
Number of pages	14
ISSN	2041-1723
DOIs	https://doi.org/10.1038/s41467-022-32936-3
Publication status	Published - 18 Jan 2023
MoE publication type	A1 Journal article-refereed

Fields of Science

1184 Genetics, developmental biology, physiology

Access to Document

10.1038/s41467-022-32936-3

s41467-022-32936-3Final published version, 1.59 MBLicence: CC BY

Cite this

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., ... Partanen, J. (2023). Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Nature Communications, 14(1), Article 157. https://doi.org/10.1038/s41467-022-32936-3

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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 and Mikko Arvas and Kati Hyv{\"a}rinen and Jarmo Ritari and Jukka Partanen",

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, Arvas, M, Hyvärinen, K, Ritari, J & Partanen, J 2023, 'Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure', Nature Communications, vol. 14, no. 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

AU - Arvas, Mikko

AU - Hyvärinen, Kati

AU - Ritari, Jarmo

AU - Partanen, Jukka

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

SN - 2041-1723

VL - 14

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 157

ER -