Exploring rare coding variants in UK biobank: preliminary associations with motor neuron disease.

ABSTRACT:

Introduction

Previous studies have illuminated a significant genetic component in motor neuron disease (MND) pathogenesis, with several causative genes identified. However, a substantial proportion of MND cases remain genetically unexplained, particularly regarding the comprehensive contribution of rare, high-impact variants across the exome.

Methods

Leveraging whole-exome sequencing data from nearly half a million UK Biobank participants, we systematically investigated the association between high-confidence protein-truncating variants (HC PTVs) and MND risk in a Caucasian subset. Our large-scale gene-based association analysis utilized REGENIE software and LOFTEE-defined HC PTVs.

Results

We identified significant preliminary associations between HC PTVs in 14 genes

SUBMITTER: Hu Z 

PROVIDER: S-EPMC12827591 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature