TY - JOUR
T1 - Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
AU - Salo, Ville
AU - Määttä, Juhani
AU - Sliz, Eeva
AU - Lehto, Petri
AU - Southerington, Tom
AU - Smith, Sarah
AU - Tammerluoto, Jyrki
AU - Vähätalo, Iida
AU - Luukkaala, Tiina
AU - Helminen, Mika
AU - Niemi, Marianna
AU - Padmanabhuni, Shanmukha Sampath
AU - Luo, Shuang
AU - Kals, Mart
AU - Pärn, Kalle
AU - Paajanen, Teemu
AU - Hiekkalinna, Tero
AU - Koskelainen, Sami
AU - Mattsson, Hannele
AU - Brunfeldt, Minna
AU - Toivola, Auli
AU - Wong, Regis
AU - Männikkö, Lotta
AU - Lähteenmäki, Sini
AU - Järvensivu, Elina
AU - Laukkanen, Markku
AU - Kaiharju, Essi
AU - Sistonen, Tuuli
AU - Laiho, Päivi
AU - Loukola, Anu
AU - Donner, Kati
AU - Weldatsadik, Rigbe
AU - Kytölä, Anastasia
AU - Ghazal, Awaisa
AU - Dada, Oluwaseun Alexander
AU - Sipilä, Timo P.
AU - Kilpeläinen, Elina
AU - Kaunisto, Mari
AU - Lahtela, L. Elisa
AU - Zheng, Zhili
AU - Kanai, Masahiro
AU - Linna, Malla Maria
AU - Palin, Henna
AU - Leinonen, Rasko
AU - Öller, Denise
AU - Cooper, Helen
AU - Aavikko, Mervi
AU - Kajanne, Risto
AU - Als, Thomas Damm
AU - Chen, Hao
AU - FinnGen
AU - Estonian Biobank Research Team
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/11/7
Y1 - 2024/11/7
N2 - Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results. In the meta-analysis, we identify 41 loci that have not been associated with LDH in prior studies on top of the 23 known risk loci. We detect LDH-associated loci in the vicinity of genes related to inflammation, disc-related structures, and synaptic transmission. Overall, our research contributes to a deeper understanding of the genetic factors behind LDH, potentially paving the way for the development of new therapeutics, prevention methods, and treatments for symptomatic LDH in the future.
AB - Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results. In the meta-analysis, we identify 41 loci that have not been associated with LDH in prior studies on top of the 23 known risk loci. We detect LDH-associated loci in the vicinity of genes related to inflammation, disc-related structures, and synaptic transmission. Overall, our research contributes to a deeper understanding of the genetic factors behind LDH, potentially paving the way for the development of new therapeutics, prevention methods, and treatments for symptomatic LDH in the future.
UR - http://www.scopus.com/inward/record.url?scp=85209089790&partnerID=8YFLogxK
U2 - 10.1038/s41467-024-53467-z
DO - 10.1038/s41467-024-53467-z
M3 - Journal article
C2 - 39511132
AN - SCOPUS:85209089790
SN - 2041-1723
VL - 15
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 9424
ER -