Genetic architecture of lumbar spinal stenosis
Salo, Ville; Määttä, Juhani; Takala, Jasmin; Heikkilä, Anni; FinnGen; Reimann, Ene; Mägi, Reedik; Estonian Biobank Research Team; Reis, Kadri; Elhanas, Abdelrahman G.; Reigo, Anu; Palta, Priit; Esko, Tõnu; Leinonen, Ville; Karppinen, Jaro; Sliz, Eeva; Kettunen, Johannes (2026-04-06)
Springer
06.04.2026
Salo, V., Määttä, J., Takala, J. et al. Genetic architecture of lumbar spinal stenosis. Nat Commun (2026). https://doi.org/10.1038/s41467-026-70935-w
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© The Author(s) 2026. This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.
https://creativecommons.org/licenses/by-nc-nd/4.0/
© The Author(s) 2026. This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.
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Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi:oulu-202604082492
https://urn.fi/URN:NBN:fi:oulu-202604082492
Tiivistelmä
Abstract
Lumbar spinal stenosis (LSS) affects over 100 million people globally, with an increasing incidence due to an ageing population. While LSS is known to be heritable, its genetic basis remains poorly understood. We conduct a genome-wide meta-analysis of LSS in 40,303 cases and 741,469 controls. We identify 73 previously unreported loci in addition to 15 known loci, and highlight spinal degeneration as a key pathogenic mechanism. In 12,784 surgically treated cases, we discover five loci specifically associated with severe disease. Age-of-onset analyses show that most variants influence risk after midlife, but some confer susceptibility as early as age 34. Mendelian randomization further demonstrates causal effects of higher body mass and fat-free mass on LSS risk. Overall, our findings expand knowledge of the genetic background of LSS and inform future translational research.
Lumbar spinal stenosis (LSS) affects over 100 million people globally, with an increasing incidence due to an ageing population. While LSS is known to be heritable, its genetic basis remains poorly understood. We conduct a genome-wide meta-analysis of LSS in 40,303 cases and 741,469 controls. We identify 73 previously unreported loci in addition to 15 known loci, and highlight spinal degeneration as a key pathogenic mechanism. In 12,784 surgically treated cases, we discover five loci specifically associated with severe disease. Age-of-onset analyses show that most variants influence risk after midlife, but some confer susceptibility as early as age 34. Mendelian randomization further demonstrates causal effects of higher body mass and fat-free mass on LSS risk. Overall, our findings expand knowledge of the genetic background of LSS and inform future translational research.
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