{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T02:14:30Z","timestamp":1789092870665,"version":"build-2803163510"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T00:00:00Z","timestamp":1752019200000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1016\/j.gimo.2025.103445","type":"journal-article","created":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T23:26:39Z","timestamp":1752621999000},"page":"103445","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom"],"prefix":"10.1016","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3733-8331","authenticated-orcid":false,"given":"Bilal","family":"Bashir","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Forrester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Downie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Marsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Dent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony S.","family":"Wierzbicki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Dawson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Schofield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Jenkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Mansfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dev","family":"Datta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Delaney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yee","family":"Teoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hamilton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaimini","family":"Cegla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Ferdousi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anoushka","family":"Kamath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahai","family":"Luvai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"O\u2019Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deanna","family":"Mamood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul N.","family":"Durrington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1714-5014","authenticated-orcid":false,"given":"Handrean","family":"Soran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.gimo.2025.103445_bib1","doi-asserted-by":"crossref","first-page":"621","DOI":"10.3390\/metabo13050621","article-title":"Severe hypertriglyceridaemia and chylomicronaemia syndrome-causes, clinical presentation, and therapeutic options","volume":"13","author":"Bashir","year":"2023","journal-title":"Metabolites"},{"key":"10.1016\/j.gimo.2025.103445_bib2","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.atherosclerosis.2018.06.814","article-title":"Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an \u201cFCS score\u201d","volume":"275","author":"Moulin","year":"2018","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.gimo.2025.103445_bib3","doi-asserted-by":"crossref","first-page":"455","DOI":"10.3389\/fendo.2020.00455","article-title":"Genetics of hypertriglyceridemia","volume":"11","author":"Dron","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"2","key":"10.1016\/j.gimo.2025.103445_bib4","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1194\/jlr.R009720","article-title":"Genetic determinants of plasma triglycerides","volume":"52","author":"Johansen","year":"2011","journal-title":"J Lipid Res"},{"issue":"9","key":"10.1016\/j.gimo.2025.103445_bib5","doi-asserted-by":"crossref","first-page":"e3473","DOI":"10.1210\/clinem\/dgab360","article-title":"Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial chylomicronemia Syndrome","volume":"106","author":"Paquette","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"10.1016\/j.gimo.2025.103445_bib6","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1161\/ATVBAHA.119.313401","article-title":"Spectrum of mutations and long-term clinical outcomes in genetic chylomicronemia syndromes","volume":"39","author":"D\u2019Erasmo","year":"2019","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"6","key":"10.1016\/j.gimo.2025.103445_bib7","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.jacl.2018.07.013","article-title":"Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society","volume":"12","author":"Ariza","year":"2018","journal-title":"J Clin Lipidol"},{"issue":"4","key":"10.1016\/j.gimo.2025.103445_bib8","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/j.jacl.2018.03.093","article-title":"Clinical and biochemical features of different molecular etiologies of familial chylomicronemia","volume":"12","author":"Hegele","year":"2018","journal-title":"J Clin Lipidol"},{"issue":"11","key":"10.1016\/j.gimo.2025.103445_bib9","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1161\/ATVBAHA.124.320955","article-title":"Ethnic diversity and distinctive features of familial vs multifactorial chylomicronemia syndrome: insights from the UK FCS national registry","volume":"44","author":"Bashir","year":"2024","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.gimo.2025.103445_bib10","doi-asserted-by":"crossref","DOI":"10.1016\/j.atherosclerosis.2024.117476","article-title":"Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)","volume":"391","author":"Bashir","year":"2024","journal-title":"Atherosclerosis"},{"issue":"12","key":"10.1016\/j.gimo.2025.103445_bib11","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1161\/ATVBAHA.122.318621","article-title":"Is genetic testing in hypertriglyceridemia useful?","volume":"42","author":"Hegele","year":"2022","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"4","key":"10.1016\/j.gimo.2025.103445_bib12","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.jacl.2018.04.009","article-title":"The burden of familial chylomicronemia syndrome: results from the global IN-FOCUS study","volume":"12","author":"Davidson","year":"2018","journal-title":"J Clin Lipidol"},{"issue":"8","key":"10.1016\/j.gimo.2025.103445_bib13","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/S2213-8587(13)70191-8","article-title":"The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management","volume":"2","author":"Hegele","year":"2014","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"12","key":"10.1016\/j.gimo.2025.103445_bib14","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1161\/ATVBAHA.122.318445","article-title":"Genetic testing for hypertriglyceridemia in academic lipid clinics: implications for precision medicine-brief report","volume":"42","author":"Deshotels","year":"2022","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"4","key":"10.1016\/j.gimo.2025.103445_bib15","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1097\/MOL.0000000000000939","article-title":"Pancreatic and cardiometabolic complications of severe hypertriglyceridaemia","volume":"35","author":"Bashir","year":"2024","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.gimo.2025.103445_bib16","author":"Durkie"},{"issue":"5","key":"10.1016\/j.gimo.2025.103445_bib17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.gimo.2025.103445_bib18","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"issue":"database issue","key":"10.1016\/j.gimo.2025.103445_bib19","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"7809","key":"10.1016\/j.gimo.2025.103445_bib20","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"issue":"D1","key":"10.1016\/j.gimo.2025.103445_bib21","doi-asserted-by":"crossref","first-page":"D998","DOI":"10.1093\/nar\/gkae1070","article-title":"The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity","volume":"53","author":"Cerezo","year":"2025","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib22","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.gimo.2025.103445_bib24","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1093\/eurpub\/ckt166","article-title":"Potential social, economic and general health benefits of consanguineous marriage: results from the Born in Bradford cohort study","volume":"24","author":"Bhopal","year":"2014","journal-title":"Eur J Public Health"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib25","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1051","article-title":"Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar","volume":"8","author":"Ben-Omran","year":"2020","journal-title":"Mol Genet Genomic Med"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib28","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s12687-015-0252-2","article-title":"Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis","volume":"7","author":"Darr","year":"2016","journal-title":"J Community Genet"},{"issue":"11","key":"10.1016\/j.gimo.2025.103445_bib30","doi-asserted-by":"crossref","first-page":"2450","DOI":"10.1161\/ATVBAHA.107.150680","article-title":"Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650)","volume":"27","author":"Wang","year":"2007","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib31","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.atherosclerosis.2015.04.815","article-title":"Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia","volume":"241","author":"Rabacchi","year":"2015","journal-title":"Atherosclerosis"},{"issue":"2","key":"10.1016\/j.gimo.2025.103445_bib32","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/j.1365-2796.2012.02516.x","article-title":"Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1in patients with severe hypertriglyceridaemia","volume":"272","author":"Surendran","year":"2012","journal-title":"J Intern Med"},{"issue":"8","key":"10.1016\/j.gimo.2025.103445_bib33","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2013-003320","article-title":"Do men consult less than women? An analysis of routinely collected UK general practice data","volume":"3","author":"Wang","year":"2013","journal-title":"BMJ Open"},{"issue":"7","key":"10.1016\/j.gimo.2025.103445_bib34","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1136\/jech-2019-213435","article-title":"Do men avoid seeking medical advice? A register-based analysis of gender-specific changes in primary healthcare use after first hospitalisation at ages 60+ in Denmark","volume":"74","author":"H\u00f6hn","year":"2020","journal-title":"J Epidemiol Community Health"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib35","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s12875-016-0440-0","article-title":"The influence of gender and other patient characteristics on health care-seeking behaviour: a QUALICOPC study","volume":"17","author":"Thompson","year":"2016","journal-title":"BMC Fam Pract"},{"issue":"6","key":"10.1016\/j.gimo.2025.103445_bib36","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1056\/NEJMoa1715944","article-title":"Volanesorsen and triglyceride levels in familial chylomicronemia syndrome","volume":"381","author":"Witztum","year":"2019","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.gimo.2025.103445_bib37","doi-asserted-by":"crossref","first-page":"e413","DOI":"10.1016\/j.jacl.2024.02.007","article-title":"Pancreatitis polygenic risk score is associated with acute pancreatitis in multifactorial chylomicronemia syndrome","volume":"18","author":"Guay","year":"2024","journal-title":"J Clin Lipidol"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib38","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jacl.2018.10.006","article-title":"Severe hypertriglyceridemia is primarily polygenic","volume":"13","author":"Dron","year":"2019","journal-title":"J Clin Lipidol"},{"issue":"1","key":"10.1016\/j.gimo.2025.103445_bib39","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.jacl.2020.01.003","article-title":"The polygenic nature of mild-to-moderate hypertriglyceridemia","volume":"14","author":"Dron","year":"2020","journal-title":"J Clin Lipidol"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774425014840?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774425014840?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T10:53:09Z","timestamp":1765623189000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949774425014840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":35,"alternative-id":["S2949774425014840"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2025.103445","relation":{},"ISSN":["2949-7744"],"issn-type":[{"value":"2949-7744","type":"print"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2025.103445","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"103445"}}