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https://doi.org/10.1101/2023.1...
Article . 2023 . Peer-reviewed
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Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

Authors: Ville Salo; Juhani Määttä; Eeva Sliz; Aarno Palotie; Mark Daly; Bridget Riley-Gills; Howard Jacob; +193 Authors

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

Abstract

Introductory paragraphGiven that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs1, the genetic basis of LDH has received relatively little research. Our aim was to increase understanding of the genetic factors influencing LDH. We performed 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 identified 41 loci that have not been associated with LDH in prior studies on top of the 23 known risk loci. We detected 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.

Keywords

Estonia, Lumbar Vertebrae, Science, Q, Intervertebral Disc Degeneration, Polymorphism, Single Nucleotide, Article, United Kingdom, Humans, Genetic Predisposition to Disease, Intervertebral Disc Displacement, Biological Specimen Banks, Genome-Wide Association Study

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    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    4
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
4
Top 10%
Average
Average
Green
gold