{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:32:18Z","timestamp":1790040738861,"version":"4.0.1"},"reference-count":41,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001674","name":"Fondation Leducq","doi-asserted-by":"publisher","award":["13CVD03"],"award-info":[{"award-number":["13CVD03"]}],"id":[{"id":"10.13039\/501100001674","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002429","name":"Amgen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002429","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","lipidjournal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.1016\/j.jacl.2017.03.019","type":"journal-article","created":{"date-parts":[[2017,4,6]],"date-time":"2017-04-06T02:31:18Z","timestamp":1491445878000},"page":"725-732.e5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":107,"title":["Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia"],"prefix":"10.1016","volume":"11","author":[{"given":"Martine","family":"Paquette","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Th\u00e9riault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Dufour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Par\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Baass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2017.03.019_bib1","series-title":"The Metabolic & Molecular Bases of Inherited Disease","first-page":"2863","article-title":"Familial hypercholesterolemia","author":"Goldstein","year":"2001"},{"issue":"45","key":"10.1016\/j.jacl.2017.03.019_bib2","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":"5","key":"10.1016\/j.jacl.2017.03.019_bib3","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":"8","key":"10.1016\/j.jacl.2017.03.019_bib4","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/S0022-2275(20)42605-7","article-title":"Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia","volume":"31","author":"Innerarity","year":"1990","journal-title":"J Lipid Res"},{"issue":"2","key":"10.1016\/j.jacl.2017.03.019_bib5","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/ng1161","article-title":"Mutations in PCSK9 cause autosomal dominant hypercholesterolemia","volume":"34","author":"Abifadel","year":"2003","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.jacl.2017.03.019_bib6","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1161\/CIRCULATIONAHA.115.018791","article-title":"Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)","volume":"133","author":"de Ferranti","year":"2016","journal-title":"Circulation"},{"issue":"2","key":"10.1016\/j.jacl.2017.03.019_bib7","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1161\/01.ATV.9.2.211","article-title":"Homozygous familial hypercholesterolemia among French Canadians in Qu\u00e9bec Province","volume":"9","author":"Moorjani","year":"1989","journal-title":"Arteriosclerosis"},{"issue":"5","key":"10.1016\/j.jacl.2017.03.019_bib8","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/aje\/kwh237","article-title":"Familial hypercholesterolemia and coronary heart disease: a HuGE association review","volume":"160","author":"Austin","year":"2004","journal-title":"Am J Epidemiol"},{"issue":"7635","key":"10.1016\/j.jacl.2017.03.019_bib9","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1016\/S0140-6736(69)90930-1","article-title":"Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states","volume":"2","author":"Slack","year":"1969","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.jacl.2017.03.019_bib10","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1161\/01.CIR.49.3.476","article-title":"Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia","volume":"49","author":"Stone","year":"1974","journal-title":"Circulation"},{"issue":"5","key":"10.1016\/j.jacl.2017.03.019_bib11","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1016\/j.jacl.2016.06.002","article-title":"Familial hypercholesterolemia among unselected contemporary patients presenting with first myocardial infarction: prevalence, risk factor burden, and impact on age at presentation","volume":"10","author":"Mortensen","year":"2016","journal-title":"J Clin Lipidol"},{"issue":"2","key":"10.1016\/j.jacl.2017.03.019_bib12","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1046\/j.1365-2796.2003.01070.x","article-title":"Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia","volume":"253","author":"de Sauvage Nolting","year":"2003","journal-title":"J Intern Med"},{"key":"10.1016\/j.jacl.2017.03.019_bib13","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/1476-511X-13-65","article-title":"Risk stratification of patients with familial hypercholesterolemia in a multi-ethnic cohort","volume":"13","author":"Allard","year":"2014","journal-title":"Lipids Health Dis"},{"issue":"1","key":"10.1016\/j.jacl.2017.03.019_bib14","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.atherosclerosis.2013.12.020","article-title":"Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14,000 mutation carriers","volume":"233","author":"Besseling","year":"2014","journal-title":"Atherosclerosis"},{"issue":"7293","key":"10.1016\/j.jacl.2017.03.019_bib15","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1136\/bmj.322.7293.1019","article-title":"Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study","volume":"322","author":"Sijbrands","year":"2001","journal-title":"BMJ"},{"issue":"13","key":"10.1016\/j.jacl.2017.03.019_bib16","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1136\/heartjnl-2015-308845","article-title":"Cardiovascular risk stratification in familial hypercholesterolaemia","volume":"102","author":"Sharifi","year":"2016","journal-title":"Heart"},{"key":"10.1016\/j.jacl.2017.03.019_bib17","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jacl.2016.10.004","article-title":"The Montreal-FH-Score: a new score to predict cardiovascular events in familial hypercholesterolemia","volume":"11","author":"Paquette","year":"2017","journal-title":"J\u00a0Clin Lipidol"},{"issue":"12","key":"10.1016\/j.jacl.2017.03.019_bib18","doi-asserted-by":"crossref","first-page":"2700","DOI":"10.1161\/ATVBAHA.114.304406","article-title":"PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study","volume":"34","author":"Saavedra","year":"2014","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"6","key":"10.1016\/j.jacl.2017.03.019_bib19","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/j.jacl.2015.08.005","article-title":"Familial hypercholesterolemia: PCSK9 InsLEU genetic variant and prediabetes\/diabetes risk","volume":"9","author":"Saavedra","year":"2015","journal-title":"J Clin Lipidol"},{"issue":"1","key":"10.1016\/j.jacl.2017.03.019_bib20","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.atherosclerosis.2003.12.037","article-title":"Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia","volume":"174","author":"Bertolini","year":"2004","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2017.03.019_bib21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s40142-014-0033-y","article-title":"Genome-wide association studies of cardiovascular disease in European and non-European populations","volume":"2","author":"McPherson","year":"2014","journal-title":"Curr Genet Med Rep"},{"issue":"10","key":"10.1016\/j.jacl.2017.03.019_bib22","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/ng.3396","article-title":"A comprehensive 1000 genomes-based genome-wide association meta-analysis of coronary artery disease","volume":"47","author":"Nikpay","year":"2015","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.jacl.2017.03.019_bib23","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1007\/s40471-015-0046-4","article-title":"Current applications of genetic risk scores to cardiovascular outcomes and subclinical phenotypes","volume":"2","author":"Smith","year":"2015","journal-title":"Curr Epidemiol Rep"},{"key":"10.1016\/j.jacl.2017.03.019_bib24","series-title":"Manual of Laboratory Operations: Lipid and Lipoprotein Analysis","volume":"Volume 1","year":"1974"},{"issue":"3","key":"10.1016\/j.jacl.2017.03.019_bib25","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/0009-9120(94)00072-4","article-title":"New methods for rapid detection of low-density lipoprotein receptor and apolipoprotein B gene mutations causing familial hypercholesterolemia","volume":"28","author":"Minnich","year":"1995","journal-title":"Clin Biochem"},{"issue":"1","key":"10.1016\/j.jacl.2017.03.019_bib26","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/nmeth.2307","article-title":"Improved whole-chromosome phasing for disease and population genetic studies","volume":"10","author":"Delaneau","year":"2013","journal-title":"Nat Methods"},{"issue":"11","key":"10.1016\/j.jacl.2017.03.019_bib27","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1038\/ng.2797","article-title":"Discovery and refinement of loci associated with lipid levels","volume":"45","author":"Willer","year":"2013","journal-title":"Nat Genet"},{"issue":"7510","key":"10.1016\/j.jacl.2017.03.019_bib28","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/nature13595","article-title":"Biological insights from 108 schizophrenia-associated genetic loci","volume":"511","year":"2014","journal-title":"Nature"},{"issue":"15","key":"10.1016\/j.jacl.2017.03.019_bib29","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1056\/NEJM199404143301503","article-title":"Genetic susceptibility to death from coronary heart disease in a study of twins","volume":"330","author":"Marenberg","year":"1994","journal-title":"N Engl J Med"},{"issue":"9","key":"10.1016\/j.jacl.2017.03.019_bib30","doi-asserted-by":"crossref","first-page":"2267","DOI":"10.1161\/ATVBAHA.113.301218","article-title":"Multilocus genetic risk scores for coronary heart disease prediction","volume":"33","author":"Ganna","year":"2013","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"12","key":"10.1016\/j.jacl.2017.03.019_bib31","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1016\/j.cjca.2016.05.014","article-title":"INTERHEART Investigators. Impact of a genetic risk score on myocardial infarction risk across different ethnic populations","volume":"32","author":"Joseph","year":"2016","journal-title":"Can J Cardiol"},{"issue":"7256","key":"10.1016\/j.jacl.2017.03.019_bib32","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nature08185","article-title":"Common polygenic variation contributes to risk of schizophrenia and bipolar disorder","volume":"460","author":"Purcell","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jacl.2017.03.019_bib33","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1186\/1471-2350-12-146","article-title":"Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk","volume":"12","author":"Simonson","year":"2011","journal-title":"BMC Med Genet"},{"issue":"9","key":"10.1016\/j.jacl.2017.03.019_bib34","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1093\/eurheartj\/eht571","article-title":"Mendelian randomization of blood lipids for coronary heart disease","volume":"36","author":"Holmes","year":"2015","journal-title":"Eur Heart J"},{"issue":"8","key":"10.1016\/j.jacl.2017.03.019_bib35","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/j.cjca.2016.01.004","article-title":"Influence of genetic risk factors on coronary heart disease occurrence in Afro-Caribbeans","volume":"32","author":"Larifla","year":"2016","journal-title":"Can J Cardiol"},{"issue":"4","key":"10.1016\/j.jacl.2017.03.019_bib36","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1161\/CIRCULATIONAHA.110.976613","article-title":"Genetic risk score and risk of myocardial infarction in Hispanics","volume":"123","author":"Qi","year":"2011","journal-title":"Circulation"},{"issue":"1","key":"10.1016\/j.jacl.2017.03.019_bib37","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.atherosclerosis.2012.02.033","article-title":"Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece","volume":"222","author":"Yiannakouris","year":"2012","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2017.03.019_bib38","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.atherosclerosis.2015.10.104","article-title":"Association between parental history and genetic risk scores for coronary heart disease prediction: the population-based CoLaus study","volume":"244","author":"Antiochos","year":"2016","journal-title":"Atherosclerosis"},{"issue":"12","key":"10.1016\/j.jacl.2017.03.019_bib39","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1161\/CIRCULATIONAHA.115.020109","article-title":"Incorporating a genetic risk score into coronary heart disease risk estimates: effect on low-density lipoprotein cholesterol levels (the MI-GENES Clinical Trial)","volume":"133","author":"Kullo","year":"2016","journal-title":"Circulation"},{"issue":"9750","key":"10.1016\/j.jacl.2017.03.019_bib40","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1016\/S0140-6736(10)61267-6","article-title":"A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses","volume":"376","author":"Ripatti","year":"2010","journal-title":"Lancet"},{"issue":"10","key":"10.1016\/j.jacl.2017.03.019_bib41","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/ng.3396","article-title":"A comprehensive 1000 genomes-based genome-wide association meta-analysis of coronary artery disease","volume":"47","author":"Nikpay","year":"2015","journal-title":"Nat Genet"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287417300892?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287417300892?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T07:24:36Z","timestamp":1658906676000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287417300892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5]]},"references-count":41,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["S1933287417300892"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2017.03.019","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2017,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2017.03.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 National Lipid Association. All rights reserved.","name":"copyright","label":"Copyright"}]}}