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...

Full description

Saved in:
Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-53467-z
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2041-1723