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

Author

Listed:
  • Ville Salo

    (University of Oulu)

  • Juhani Määttä

    (University of Oulu
    Oulu University Hospital and 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
    University of Helsinki)

  • Tõnu Esko

    (University of Tartu)

  • Jaro Karppinen

    (University of Oulu
    Oulu University Hospital and University of Oulu
    Rehabilitation Services of Wellbeing Services County of South Karelia)

  • Johannes Kettunen

    (University of Oulu)

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.

Suggested Citation

  • Ville Salo & Juhani Määttä & Eeva Sliz & Ene Reimann & Reedik Mägi & Kadri Reis & Abdelrahman G. Elhanas & Anu Reigo & Priit Palta & Tõnu Esko & Jaro Karppinen & Johannes Kettunen, 2024. "Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-53467-z
    DOI: 10.1038/s41467-024-53467-z
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    References listed on IDEAS

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