Genome-wide Meta-analysis Conducted in Three Large Biobanks Expands the Genetic Landscape of Lumbar Disc Herniations

Overview

Journal Nat Commun

Specialty Biology

Date 2024 Nov 7

PMID 39511132

Authors

Ville Salo

Juhani Maatta

Eeva Sliz

Ene Reimann

Reedik Magi

Kadri Reis

Abdelrahman G Elhanas

Anu Reigo

Priit Palta

Tonu Esko

Jaro Karppinen

Johannes Kettunen

Affiliations

Soon will be listed here.

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.

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