{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:34:24Z","timestamp":1790778864390,"version":"4.1.0"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["PG 08\/008"],"award-info":[{"award-number":["PG 08\/008"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Department of Health's NIHR Biomedical Research Centers"},{"name":"Fondation Leducq Transatlantic Networks","award":["14 CVD03"],"award-info":[{"award-number":["14 CVD03"]}]},{"name":"MB","award":["PEst-OE\/BIA\/UI4046\/2011"],"award-info":[{"award-number":["PEst-OE\/BIA\/UI4046\/2011"]}]}],"content-domain":{"domain":["atherosclerosis-journal.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Atherosclerosis"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1016\/j.atherosclerosis.2018.06.006","type":"journal-article","created":{"date-parts":[[2018,9,28]],"date-time":"2018-09-28T09:45:51Z","timestamp":1538127951000},"page":"457-463","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":66,"special_numbering":"C","title":["Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia"],"prefix":"10.1016","volume":"277","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2120-2088","authenticated-orcid":false,"given":"Marta","family":"Futema","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mafalda","family":"Bourbon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8221-6547","authenticated-orcid":false,"given":"Steve E.","family":"Humphries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"45","key":"10.1016\/j.atherosclerosis.2018.06.006_bib1","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","article-title":"Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society","volume":"34","author":"Nordestgaard","year":"2013","journal-title":"Eur. Heart J."},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0021-9150(02)00330-1","article-title":"A\u00a0review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia","volume":"168","author":"Marks","year":"2003","journal-title":"Atherosclerosis"},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib3","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.atherosclerosis.2013.04.011","article-title":"Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic","volume":"229","author":"Futema","year":"2013","journal-title":"Atherosclerosis"},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib4","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.atherosclerosis.2015.03.003","article-title":"Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales","volume":"240","author":"Haralambos","year":"2015","journal-title":"Atherosclerosis"},{"issue":"2","key":"10.1016\/j.atherosclerosis.2018.06.006_bib5","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0002-9149(93)90155-6","article-title":"Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics","volume":"72","author":"Williams","year":"1993","journal-title":"Am. J. Cardiol."},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib6","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/humu.22215","article-title":"Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation","volume":"34","author":"Marduel","year":"2013","journal-title":"Hum. Mutat."},{"issue":"6","key":"10.1016\/j.atherosclerosis.2018.06.006_bib7","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.1399-0004.2009.01356.x","article-title":"Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project","volume":"77","author":"Taylor","year":"2010","journal-title":"Clin. Genet."},{"issue":"3 Suppl","key":"10.1016\/j.atherosclerosis.2018.06.006_bib8","first-page":"S1","article-title":"Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia","volume":"5","author":"Goldberg","year":"2011","journal-title":"J.\u00a0Clin. Lipidol."},{"issue":"2","key":"10.1016\/j.atherosclerosis.2018.06.006_bib9","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.atherosclerosissup.2011.06.001","article-title":"Familial hypercholesterolaemia: a model of care for Australasia","volume":"12","author":"Watts","year":"2011","journal-title":"Atherosclerosis Suppl."},{"issue":"23","key":"10.1016\/j.atherosclerosis.2018.06.006_bib10","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1093\/eurheartj\/ehx111","article-title":"Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK","volume":"38","author":"Kerr","year":"2017","journal-title":"Eur. Heart J."},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib11","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.jacl.2017.01.002","article-title":"Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia","volume":"11","author":"Lazaro","year":"2017","journal-title":"J.\u00a0Clin. Lipidol."},{"issue":"9874","key":"10.1016\/j.atherosclerosis.2018.06.006_bib12","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1016\/S0140-6736(12)62127-8","article-title":"Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study","volume":"381","author":"Talmud","year":"2013","journal-title":"Lancet"},{"issue":"7307","key":"10.1016\/j.atherosclerosis.2018.06.006_bib13","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/nature09270","article-title":"Biological, clinical and population relevance of 95 loci for blood lipids","volume":"466","author":"Teslovich","year":"2010","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.atherosclerosis.2018.06.006_bib14","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1161\/CIRCRESAHA.115.304660","article-title":"Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia","volume":"115","author":"Fouchier","year":"2014","journal-title":"Circ. Res."},{"issue":"2","key":"10.1016\/j.atherosclerosis.2018.06.006_bib15","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.ajhg.2014.01.010","article-title":"Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol","volume":"94","author":"Lange","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"Pt 1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib16","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1258\/acb.2008.008094","article-title":"Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the department of health familial hypercholesterolaemia cascade testing project","volume":"46","author":"Hadfield","year":"2009","journal-title":"Ann. Clin. Biochem."},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib17","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1373\/clinchem.2014.231365","article-title":"Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries","volume":"61","author":"Futema","year":"2015","journal-title":"Clin. Chem."},{"key":"10.1016\/j.atherosclerosis.2018.06.006_bib18","doi-asserted-by":"crossref","first-page":"e99","DOI":"10.1016\/j.atherosclerosis.2017.06.324","article-title":"Applicability of the low-density lipoprotein cholesterol gene score in a South European population","volume":"263","author":"Mariano","year":"2017","journal-title":"Atherosclerosis"},{"issue":"6","key":"10.1016\/j.atherosclerosis.2018.06.006_bib19","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/j.ajhg.2013.04.025","article-title":"Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations","volume":"92","author":"Coram","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"17","key":"10.1016\/j.atherosclerosis.2018.06.006_bib20","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1093\/eurheartj\/ehw028","article-title":"Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217","volume":"37","author":"Benn","year":"2016","journal-title":"Eur. Heart J."},{"issue":"7571","key":"10.1016\/j.atherosclerosis.2018.06.006_bib21","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/nature14962","article-title":"The UK10K project identifies rare variants in health and disease","volume":"526","author":"Consortium","year":"2015","journal-title":"Nature"},{"issue":"7537","key":"10.1016\/j.atherosclerosis.2018.06.006_bib22","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nature13917","article-title":"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction","volume":"518","author":"Do","year":"2015","journal-title":"Nature"},{"issue":"17","key":"10.1016\/j.atherosclerosis.2018.06.006_bib23","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1056\/NEJMoa1602777","article-title":"Child-parent familial hypercholesterolemia screening in primary care","volume":"375","author":"Wald","year":"2016","journal-title":"N.\u00a0Engl. J. Med."},{"issue":"9","key":"10.1016\/j.atherosclerosis.2018.06.006_bib24","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2017-016461","article-title":"Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis","volume":"7","author":"Akioyamen","year":"2017","journal-title":"BMJ Open"},{"issue":"8","key":"10.1016\/j.atherosclerosis.2018.06.006_bib25","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jmedgenet-2014-102405","article-title":"Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR\/APOB\/PCSK9 mutations","volume":"51","author":"Futema","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"issue":"4","key":"10.1016\/j.atherosclerosis.2018.06.006_bib26","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.jacl.2016.02.017","article-title":"Children with hypercholesterolemia of unknown cause: value of genetic risk scores","volume":"10","author":"Sjouke","year":"2016","journal-title":"J.\u00a0Clin. Lipidol."},{"issue":"6","key":"10.1016\/j.atherosclerosis.2018.06.006_bib27","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1016\/j.jacl.2016.09.011","article-title":"Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE","volume":"10","author":"Jarauta","year":"2016","journal-title":"J.\u00a0Clin. Lipidol."},{"issue":"14","key":"10.1016\/j.atherosclerosis.2018.06.006_bib28","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1016\/j.jacc.2017.08.009","article-title":"Genetically confirmed familial hypercholesterolemia in patients with Acute coronary Syndrome","volume":"70","author":"Amor-Salamanca","year":"2017","journal-title":"J.\u00a0Am. Coll. Cardiol."},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib29","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1097\/PAT.0000000000000026","article-title":"Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting","volume":"46","author":"Hinchcliffe","year":"2014","journal-title":"Pathology"},{"issue":"2","key":"10.1016\/j.atherosclerosis.2018.06.006_bib30","doi-asserted-by":"crossref","first-page":"3304","DOI":"10.1016\/j.atherosclerosis.2014.08.002","article-title":"The impact of routine next generation sequencing testing for familial hypercholesterolaemia - 5 months service experience","volume":"236","author":"Yarram-Smith","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.atherosclerosis.2018.06.006_bib31","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1471-2350-15-70","article-title":"Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study","volume":"15","author":"Norsworthy","year":"2014","journal-title":"BMC Med. Genet."},{"issue":"4","key":"10.1016\/j.atherosclerosis.2018.06.006_bib32","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/joim.12263","article-title":"Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing","volume":"276","author":"Maglio","year":"2014","journal-title":"J.\u00a0Intern. Med."},{"issue":"6","key":"10.1016\/j.atherosclerosis.2018.06.006_bib33","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ejhg.2014.199","article-title":"Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia","volume":"23","author":"Khamis","year":"2015","journal-title":"Eur. J. Hum. Genet. EJHG"},{"issue":"9","key":"10.1016\/j.atherosclerosis.2018.06.006_bib34","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1093\/hmg\/5.9.1325","article-title":"Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism","volume":"5","author":"Webb","year":"1996","journal-title":"Hum. Mol. Genet."},{"issue":"12","key":"10.1016\/j.atherosclerosis.2018.06.006_bib35","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1136\/jmg.2006.038356","article-title":"Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk","volume":"43","author":"Humphries","year":"2006","journal-title":"J.\u00a0Med. Genet."},{"issue":"8","key":"10.1016\/j.atherosclerosis.2018.06.006_bib36","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1161\/01.ATV.15.8.1025","article-title":"Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia","volume":"15","author":"Gaffney","year":"1995","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"10","key":"10.1016\/j.atherosclerosis.2018.06.006_bib37","doi-asserted-by":"crossref","first-page":"E76","DOI":"10.1161\/01.ATV.20.10.e76","article-title":"R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia","volume":"20","author":"Rabes","year":"2000","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"3","key":"10.1016\/j.atherosclerosis.2018.06.006_bib38","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/mgg3.17","article-title":"Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia","volume":"1","author":"Thomas","year":"2013","journal-title":"Mol. Genet. Genom. Med."},{"issue":"7","key":"10.1016\/j.atherosclerosis.2018.06.006_bib39","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1093\/hmg\/ddt573","article-title":"Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia","volume":"23","author":"Alves","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.atherosclerosis.2018.06.006_bib40","first-page":"405","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. Official J. Am. Coll. Med. Genet."},{"issue":"4","key":"10.1016\/j.atherosclerosis.2018.06.006_bib41","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmedgenet-2016-104054","article-title":"The UCL low-density lipoprotein receptor gene variant database: pathogenicity update","volume":"54","author":"Leigh","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"issue":"5","key":"10.1016\/j.atherosclerosis.2018.06.006_bib42","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1093\/aje\/kwh236","article-title":"Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review","volume":"160","author":"Austin","year":"2004","journal-title":"Am. J. Epidemiol."},{"issue":"22","key":"10.1016\/j.atherosclerosis.2018.06.006_bib43","doi-asserted-by":"crossref","first-page":"2578","DOI":"10.1016\/j.jacc.2016.03.520","article-title":"Diagnostic yield of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia","volume":"67","author":"Khera","year":"2016","journal-title":"J.\u00a0Am. Coll. Cardiol."},{"issue":"1","key":"10.1016\/j.atherosclerosis.2018.06.006_bib44","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0021-9150(03)00233-8","article-title":"Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study","volume":"170","author":"Neil","year":"2003","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.atherosclerosis.2018.06.006_bib45","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.atherosclerosis.2017.05.015","article-title":"Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia","volume":"263","author":"Sharifi","year":"2017","journal-title":"Atherosclerosis"}],"container-title":["Atherosclerosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021915018303162?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021915018303162?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:38:59Z","timestamp":1758155939000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021915018303162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":45,"alternative-id":["S0021915018303162"],"URL":"https:\/\/doi.org\/10.1016\/j.atherosclerosis.2018.06.006","relation":{},"ISSN":["0021-9150"],"issn-type":[{"value":"0021-9150","type":"print"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia","name":"articletitle","label":"Article Title"},{"value":"Atherosclerosis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.atherosclerosis.2018.06.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}