{"id":"https://openalex.org/W7204813033","doi":"https://doi.org/10.64898/2026.08.25.26361359","title":"Young people with obesity and rare disease \u2013 genotypes, phenotypes and healthcare use","display_name":"Young people with obesity and rare disease \u2013 genotypes, phenotypes and healthcare use","publication_year":2026,"publication_date":"2026-08-31","ids":{"openalex":"https://openalex.org/W7204813033","doi":"https://doi.org/10.64898/2026.08.25.26361359"},"language":"en","primary_location":{"id":"doi:10.64898/2026.08.25.26361359","doi":"https://doi.org/10.64898/2026.08.25.26361359","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.25.26361359","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.64898/2026.08.25.26361359","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5148805544","display_name":"Chloe Chia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I192597271","display_name":"MRC Cognition and Brain Sciences Unit","ror":"https://ror.org/055bpw879","country_code":"GB","type":"facility","lineage":["https://openalex.org/I192597271","https://openalex.org/I241749","https://openalex.org/I4210087105","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210146690","display_name":"National University Hospital","ror":"https://ror.org/04fp9fm22","country_code":"SG","type":"healthcare","lineage":["https://openalex.org/I165932596","https://openalex.org/I4210146690","https://openalex.org/I4210150261"]}],"countries":["GB","SG"],"is_corresponding":false,"raw_author_name":"Chloe Chia","raw_affiliation_strings":["Department of Genomic Medicine, University of Cambridge, U.K","Department of Pharmacy, National University Hospital, Singapore","MRC Cognition and Brain Sciences Unit, University of Cambridge, U.K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genomic Medicine, University of Cambridge, U.K","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"Department of Pharmacy, National University Hospital, Singapore","institution_ids":["https://openalex.org/I4210146690"]},{"raw_affiliation_string":"MRC Cognition and Brain Sciences Unit, University of Cambridge, U.K","institution_ids":["https://openalex.org/I192597271","https://openalex.org/I241749"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088503779","display_name":"Kate Baker","orcid":"https://orcid.org/0000-0003-2986-0584","observed_orcids":["https://orcid.org/0000-0003-2986-0584","https://orcid.org/0000-0001-5850-1949"]},"institutions":[{"id":"https://openalex.org/I192597271","display_name":"MRC Cognition and Brain Sciences Unit","ror":"https://ror.org/055bpw879","country_code":"GB","type":"facility","lineage":["https://openalex.org/I192597271","https://openalex.org/I241749","https://openalex.org/I4210087105","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kate Baker","raw_affiliation_strings":["Department of Genomic Medicine, University of Cambridge, U.K","Department of Pathology, University of Cambridge, U.K","MRC Cognition and Brain Sciences Unit, University of Cambridge, U.K"],"raw_orcid":"https://orcid.org/0000-0003-2986-0584","affiliations":[{"raw_affiliation_string":"Department of Genomic Medicine, University of Cambridge, U.K","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"Department of Pathology, University of Cambridge, U.K","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"MRC Cognition and Brain Sciences Unit, University of Cambridge, U.K","institution_ids":["https://openalex.org/I192597271","https://openalex.org/I241749"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6743000149726868,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6743000149726868,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10010","display_name":"Obesity, Physical Activity, Diet","score":0.18400000035762787,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.05270000174641609,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/early-onset-obesity","display_name":"early-onset obesity","score":0.8980000019073486},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.9160000085830688},{"id":"https://openalex.org/keywords/youth","display_name":"youth","score":0.8100000023841858},{"id":"https://openalex.org/keywords/obesity-genes","display_name":"obesity-related genes","score":0.7059999704360962},{"id":"https://openalex.org/keywords/socioeconomic-deprivation","display_name":"socioeconomic deprivation","score":0.5889999866485596},{"id":"https://openalex.org/keywords/health-care-utilization","display_name":"health care utilization","score":0.8330000042915344},{"id":"https://openalex.org/keywords/mental-health-services","display_name":"mental health services","score":0.890999972820282},{"id":"https://openalex.org/keywords/acute-care","display_name":"acute care","score":0.7540000081062317},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.7670000195503235},{"id":"https://openalex.org/keywords/multi-organ-involvement","display_name":"multi-organ involvement","score":0.8560000061988831},{"id":"https://openalex.org/keywords/obesity-phenotypes","display_name":"obesity phenotypes","score":0.7419999837875366},{"id":"https://openalex.org/keywords/100-000-genomes-project","display_name":"100,000 Genomes Project","score":0.859000027179718}],"concepts":[{"id":"https://openalex.org/C511355011","wikidata":"https://www.wikidata.org/wiki/Q12174","display_name":"Obesity","level":2,"score":0.8154000043869019},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.660099983215332},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6245999932289124},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5095000267028809},{"id":"https://openalex.org/C138816342","wikidata":"https://www.wikidata.org/wiki/Q189603","display_name":"Public health","level":2,"score":0.49390000104904175},{"id":"https://openalex.org/C147077947","wikidata":"https://www.wikidata.org/wiki/Q1515895","display_name":"Socioeconomic status","level":3,"score":0.48420000076293945},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.40799999237060547},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.38199999928474426},{"id":"https://openalex.org/C134362201","wikidata":"https://www.wikidata.org/wiki/Q317309","display_name":"Mental health","level":2,"score":0.3723999857902527},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.3540000021457672},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3357999920845032},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.32679998874664307},{"id":"https://openalex.org/C2779422640","wikidata":"https://www.wikidata.org/wiki/Q3241451","display_name":"Childhood obesity","level":4,"score":0.3188000023365021},{"id":"https://openalex.org/C74909509","wikidata":"https://www.wikidata.org/wiki/Q10387","display_name":"Gerontology","level":1,"score":0.29280000925064087},{"id":"https://openalex.org/C205545832","wikidata":"https://www.wikidata.org/wiki/Q17156455","display_name":"Young adult","level":2,"score":0.2881999909877777},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.28760001063346863},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2863999903202057},{"id":"https://openalex.org/C2779159551","wikidata":"https://www.wikidata.org/wiki/Q1414874","display_name":"Comorbidity","level":2,"score":0.2743000090122223},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.2628999948501587},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.26159998774528503},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.25369998812675476}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.08.25.26361359","doi":"https://doi.org/10.64898/2026.08.25.26361359","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.25.26361359","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.64898/2026.08.25.26361359","doi":"https://doi.org/10.64898/2026.08.25.26361359","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.25.26361359","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"},{"score":0.4000000059604645,"display_name":"Reduced inequalities","id":"https://metadata.un.org/sdg/10"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W1748156278","https://openalex.org/W1994975332","https://openalex.org/W2027112907","https://openalex.org/W2031964961","https://openalex.org/W2054706730","https://openalex.org/W2074738717","https://openalex.org/W2082704080","https://openalex.org/W2116451646","https://openalex.org/W2121343862","https://openalex.org/W2156865358","https://openalex.org/W2166388246","https://openalex.org/W2267793926","https://openalex.org/W2410491714","https://openalex.org/W2598438590","https://openalex.org/W2902131310","https://openalex.org/W2961777555","https://openalex.org/W3007260487","https://openalex.org/W3022441333","https://openalex.org/W3135772869","https://openalex.org/W3143890253","https://openalex.org/W3155856705","https://openalex.org/W3160415993","https://openalex.org/W3189907243","https://openalex.org/W3212464243","https://openalex.org/W4200451531","https://openalex.org/W4211168210","https://openalex.org/W4291493240","https://openalex.org/W4388616071","https://openalex.org/W4391260397","https://openalex.org/W4394539210","https://openalex.org/W4406730538","https://openalex.org/W4408588930","https://openalex.org/W4409189962","https://openalex.org/W4409728294","https://openalex.org/W4412487863","https://openalex.org/W7073949590"],"related_works":["https://openalex.org/W4412846618","https://openalex.org/W4385649865","https://openalex.org/W4416263732","https://openalex.org/W4417499342","https://openalex.org/W2612816147","https://openalex.org/W4387668634","https://openalex.org/W2926621736","https://openalex.org/W2892130807","https://openalex.org/W4280496435","https://openalex.org/W3127179820"],"abstract_inverted_index":{"ABSTRACT":[0],"Obesity":[1],"is":[2,42,229],"a":[3,43,54,218],"significant":[4,103,232],"public":[5],"health":[6,63,124,130,236],"concern.":[7],"Early-onset":[8],"obesity":[9,36,71,76,109,114,170,183,199,215],"in":[10,37],"the":[11,27,38,80,165,173,224],"context":[12],"of":[13,32,58,119,135,201,206,221],"rare":[14,39,85,225],"disease":[15,40,86,226],"can":[16],"reflect":[17],"genetically-mediated":[18],"pathology":[19],"or":[20],"elevated":[21],"susceptibility":[22],"through":[23],"indirect":[24],"mechanisms.":[25],"Mapping":[26],"diverse":[28],"characteristics":[29],"and":[30,48,62,74,89,108,122,155,160,169,208,228,234],"needs":[31],"young":[33,68],"people":[34,69,112],"with":[35,70,113,143,185,203,217,231],"population":[41],"first":[44],"step":[45],"toward":[46],"mechanistic":[47],"translational":[49],"research.":[50],"We":[51,101],"carried":[52],"out":[53],"retrospective":[55],"comparative":[56],"analysis":[57,179],"demographic,":[59],"genotypic,":[60],"phenotypic":[61,187],"service":[64],"utilisation":[65],"data":[66],"for":[67],"(cases:":[72],"n=500)":[73],"without":[75],"(controls:":[77],"n=11,444)":[78],"from":[79,191],"UK":[81],"100,000":[82],"Genomes":[83],"Project":[84],"cohort.":[87],"Cases":[88],"controls":[90,156],"were":[91],"recruited":[92],"prior":[93],"to":[94,180],"genomic":[95],"diagnosis,":[96],"across":[97],"clinical":[98],"disorder":[99],"categories.":[100],"observed":[102],"association":[104,142],"between":[105,153,167],"socioeconomic":[106],"deprivation":[107],"risk.":[110],"Young":[111],"had":[115],"significantly":[116],"higher":[117,129],"utilisations":[118],"acute":[120],"care":[121],"mental":[123,235],"services,":[125],"indicating":[126],"an":[127],"overall":[128],"burden.":[131],"A":[132],"curated":[133],"panel":[134],"519":[136],"candidate":[137],"obesity-associated":[138],"genes":[139],"demonstrated":[140],"aggregate":[141],"obesity,":[144],"although":[145],"no":[146],"single":[147],"gene":[148],"reached":[149],"significance.":[150],"Phenotypic":[151],"comparison":[152],"cases":[154],"highlighted":[157],"increased":[158],"multi-organ":[159],"neurological":[161],"system":[162],"involvement,":[163],"highlighting":[164],"overlap":[166],"neurodevelopmental":[168,207],"risks.":[171],"Within":[172],"case":[174],"group,":[175],"we":[176],"conducted":[177],"cluster":[178],"identify":[181],"early-onset":[182],"groups":[184],"different":[186,192],"profiles,":[188],"potentially":[189],"arising":[190],"causal":[193],"pathways":[194],"-":[195],"this":[196],"identified":[197],"six":[198],"subgroups":[200],"interest,":[202],"differing":[204],"involvement":[205],"other":[209],"systems.":[210],"Our":[211],"study":[212],"confirms":[213],"that":[214],"co-occurs":[216],"wide":[219],"range":[220],"factors":[222],"within":[223],"population,":[227],"associated":[230],"physical":[233],"needs,":[237],"requiring":[238],"holistic":[239],"lifelong":[240],"care.":[241]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-09-01T00:00:00"}
