{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17"],"submitter":["Hu Z"],"pubmed_abstract":["<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>We identified significant preliminary associations between HC PTVs in 14 genes "],"journal":["Frontiers in aging neuroscience"],"pagination":["1735522"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12827591"],"repository":["biostudies-literature"],"pubmed_title":["Exploring rare coding variants in UK biobank: preliminary associations with motor neuron disease."],"pmcid":["PMC12827591"],"pubmed_authors":["Yan QQ","Liu J","Wan JJ","Fan Y","Hu Z"],"additional_accession":[]},"is_claimable":false,"name":"Exploring rare coding variants in UK biobank: preliminary associations with motor neuron disease.","description":"<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>We identified significant preliminary associations between HC PTVs in 14 genes ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-06-06T03:22:55.043Z","creation":"2026-06-06T03:10:51.331Z"},"accession":"S-EPMC12827591","cross_references":{"pubmed":["41583004"],"doi":["10.3389/fnagi.2025.1735522"]}}