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Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

Ville Salo (), Juhani Määttä, Eeva Sliz, Ene Reimann, Reedik Mägi, Kadri Reis, Abdelrahman G. Elhanas, Anu Reigo, Priit Palta, Tõnu Esko, Jaro Karppinen and Johannes Kettunen
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Ville Salo: University of Oulu
Juhani Määttä: University of Oulu
Eeva Sliz: University of Oulu
Ene Reimann: University of Tartu
Reedik Mägi: University of Tartu
Kadri Reis: University of Tartu
Abdelrahman G. Elhanas: University of Tartu
Anu Reigo: University of Tartu
Priit Palta: University of Tartu
Tõnu Esko: University of Tartu
Jaro Karppinen: University of Oulu
Johannes Kettunen: University of Oulu

Nature Communications, 2024, vol. 15, issue 1, 1-14

Abstract: Abstract 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.

Date: 2024
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DOI: 10.1038/s41467-024-53467-z

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