{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T04:25:42Z","timestamp":1787113542429,"version":"build-2736575974"},"reference-count":54,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH\u201022\u20101\u20100668"],"award-info":[{"award-number":["W81XWH\u201022\u20101\u20100668"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid\u2010treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to &lt;\u20097\u2009years) steroid na\u00efve clinical trial participants. Participants in clinical trials (VBP15\u2010002\/003 [\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200948]; VBP15\u2010004 [\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009121]; DNA available for\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009110) were genotyped for eight published genetic modifier loci, and associations of genotypes with baseline motor function defined via an age\u2010adjusted linear model. Corticosteroid drug response was modeled by genotype\u2010stratified placebo vs. steroid treatment at 12\u2010 and 24\u2010weeks posttreatment (mixed model for repeated measures). Serum proteome profiles (SomaScan) were stratified by modifier genotype, and modifier\u2010associated biomarkers mapped to muscle cell types using snSeq datasets. Two loci showed association with baseline motor outcomes (\n                    <jats:italic>LTBP4<\/jats:italic>\n                    ,\n                    <jats:italic>DYNLT5<\/jats:italic>\n                    ). LTBP4 genotype (rs1131620) was associated with baseline (pretreatment) motor function for all five motor tests studied (time to stand from supine velocity, time to run\/walk 10\u2009m velocity, time to climb 4 stairs velocity, 6\u2010min walk distance, and NorthStar Ambulatory Assessment).\n                    <jats:italic>DYNLT5<\/jats:italic>\n                    genotype (rs1060575) was associated with time to stand from supine velocity, time to climb 4 stairs velocity, and time to run\/walk 10\u2009m velocity. Stratification of baseline proteome profiles by\n                    <jats:italic>LTBP4<\/jats:italic>\n                    genotype and mapping of genotype\u2010associated serum proteins to specific cell types in muscle (snRNAseq) suggested that IL\u201023, IL\u20106, and IL\u201017D interacting pathways in muscle capillaries are contributors to disease progression. In contrast, the\n                    <jats:italic>DYNLT5<\/jats:italic>\n                    genotype was associated with proteosome and chaperonin pathways.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Trial Registration:<\/jats:bold>\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrials.gov\">clinicaltrials.gov<\/jats:ext-link>\n                    identifier: NCT02760264, NCT02760277, NCT03439670.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70277","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T03:59:06Z","timestamp":1787111946000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links\n                    <scp>LTBP4<\/scp>\n                    Genetic Modifier to\n                    <scp>IL<\/scp>\n                    \u201023\/\n                    <scp>CD93<\/scp>\n                    Pathways in Muscle"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4120-2015","authenticated-orcid":false,"given":"Utkarsh J.","family":"Dang","sequence":"first","affiliation":[{"name":"Department of Health Sciences Carleton University  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Statistics Old Dominion University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5525-9576","authenticated-orcid":false,"given":"Daniele","family":"Sabbatini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences, and Public Health University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7740-4156","authenticated-orcid":false,"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3075-6525","authenticated-orcid":false,"given":"Luca","family":"Bello","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula R.","family":"Clemens","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8455-0637","authenticated-orcid":false,"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[{"name":"John Walton Neuromuscular Disease Centre Newcastle University  Newcastle Upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"van den Anker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse","family":"Damsker","sequence":"additional","affiliation":[{"name":"ReveraGen BioPharma  Vienna Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Hagerty","sequence":"additional","affiliation":[{"name":"ReveraGen BioPharma  Vienna Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yetrib","family":"Hathout","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutical Sciences State University of New York at Binghamton  Binghamton New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Ziemba","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutical Sciences State University of New York at Binghamton  Binghamton New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Morgenroth","sequence":"additional","affiliation":[{"name":"TRiNDS LLC  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5589-4652","authenticated-orcid":false,"given":"Surajit","family":"Bhattacharya","sequence":"additional","affiliation":[{"name":"Center for Precision Medicine and Genomics Research Children's National Hospital  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanneboyina","family":"Nagaraju","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutical Sciences State University of New York at Binghamton  Binghamton New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyoti K.","family":"Jaiswal","sequence":"additional","affiliation":[{"name":"Center for Precision Medicine and Genomics Research Children's National Hospital  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6470-5139","authenticated-orcid":false,"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Pharmaceutical Sciences State University of New York at Binghamton  Binghamton New York 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