{"doi":"10.1101/2021.11.03.21265899","title":"Candidate gene modifiers of dystrophinopathy identified by the uniform application of genome-wide datasets to novel GWAS-identified loci","abstract":"Abstract Although the major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene ( DMD ) mutation disrupts the mRNA reading frame or allows expression of a partially functional protein, other genes have been proposed or demonstrated to modify the severity of disease progression. In a companion paper to this one, we describe our novel approaches to genome-wide association study (GWAS) of loss of ambulation (LOA) in the largest genome-wide search to date for loci influencing disease severity in DMD patients. Candidate regulatory SNPs that modify disease progression were identified using an evidential statistical paradigm and here we present a uniform application of recent functional genomic datasets to explore the potential functional impact of the top six candidate regions with PPLD scores of ≥0.4. The results of this analysis of the largest DMD GWAS survey to date elucidate recurrent and potentially new pathways for intervention in the dystrophinopathies.","journal":"medRxiv","year":2021,"id":219494,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9507,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":818129,"name":"Megan A. Waldrop","orcid":"0000-0001-9621-8319","position":1,"is_corresponding":false},{"id":752451,"name":"Paul T. Martin","orcid":"0000-0002-0674-6191","position":2,"is_corresponding":false},{"id":818733,"name":"Roxane Alles","orcid":null,"position":3,"is_corresponding":false},{"id":791510,"name":"Diane M. Dunn","orcid":null,"position":4,"is_corresponding":false},{"id":818130,"name":"Lindsay N. Alfano","orcid":"0000-0002-2263-7569","position":5,"is_corresponding":false},{"id":818131,"name":"Tabatha R. Simmons","orcid":"0000-0001-8505-9885","position":6,"is_corresponding":false},{"id":298770,"name":"Melissa Moore‐Clingenpeel","orcid":"0000-0003-3782-0726","position":7,"is_corresponding":false},{"id":818734,"name":"John Burian","orcid":null,"position":8,"is_corresponding":false},{"id":431797,"name":"Sang-Cheol Seok","orcid":"0000-0003-3955-9891","position":9,"is_corresponding":false},{"id":40223,"name":"Veronica J. Vieland","orcid":"0000-0002-3004-3840","position":10,"is_corresponding":false},{"id":366837,"name":"Robert B. Weiss","orcid":"0000-0002-3188-3569","position":11,"is_corresponding":false},{"id":344363,"name":"Kevin M. Flanigan","orcid":"0000-0001-6440-3376","position":0,"is_corresponding":true}],"reference_count":45,"raw_metadata":null,"created_at":"2026-07-18T23:53:38.409982Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}