Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
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...
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Nature Portfolio
2024-11-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-024-53467-z |
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| author | Ville Salo Juhani Määttä Eeva Sliz FinnGen Ene Reimann Reedik Mägi Estonian Biobank Research Team Kadri Reis Abdelrahman G. Elhanas Anu Reigo Priit Palta Tõnu Esko Jaro Karppinen Johannes Kettunen |
| author_facet | Ville Salo Juhani Määttä Eeva Sliz FinnGen Ene Reimann Reedik Mägi Estonian Biobank Research Team Kadri Reis Abdelrahman G. Elhanas Anu Reigo Priit Palta Tõnu Esko Jaro Karppinen Johannes Kettunen |
| author_sort | Ville Salo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e11fbdff18b34dd8bca25fae232611aa |
| institution | DOAJ |
| issn | 2041-1723 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj-art-e11fbdff18b34dd8bca25fae232611aa2025-08-20T02:50:04ZengNature PortfolioNature Communications2041-17232024-11-0115111410.1038/s41467-024-53467-zGenome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniationsVille Salo0Juhani Määttä1Eeva Sliz2FinnGenEne Reimann3Reedik Mägi4Estonian Biobank Research TeamKadri Reis5Abdelrahman G. Elhanas6Anu Reigo7Priit Palta8Tõnu Esko9Jaro Karppinen10Johannes Kettunen11Research Unit of Health Sciences and Technology, Faculty of Medicine, University of OuluResearch Unit of Health Sciences and Technology, Faculty of Medicine, University of OuluResearch unit of Population Health, Faculty of Medicine, and Biocenter Oulu, University of OuluEstonian Genome Centre, Institute of Genomics, University of TartuEstonian Genome Centre, Institute of Genomics, University of TartuEstonian Genome Centre, Institute of Genomics, University of TartuEstonian Genome Centre, Institute of Genomics, University of TartuEstonian Genome Centre, Institute of Genomics, University of TartuEstonian Genome Centre, Institute of Genomics, University of TartuEstonian Genome Centre, Institute of Genomics, University of TartuResearch Unit of Health Sciences and Technology, Faculty of Medicine, University of OuluResearch unit of Population Health, Faculty of Medicine, and Biocenter Oulu, University of OuluAbstract 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.https://doi.org/10.1038/s41467-024-53467-z |
| spellingShingle | Ville Salo Juhani Määttä Eeva Sliz FinnGen Ene Reimann Reedik Mägi Estonian Biobank Research Team Kadri Reis Abdelrahman G. Elhanas Anu Reigo Priit Palta Tõnu Esko Jaro Karppinen Johannes Kettunen Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations Nature Communications |
| title | Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations |
| title_full | Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations |
| title_fullStr | Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations |
| title_full_unstemmed | Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations |
| title_short | Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations |
| title_sort | genome wide meta analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations |
| url | https://doi.org/10.1038/s41467-024-53467-z |
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