{"id":"https://openalex.org/W2004500080","doi":"https://doi.org/10.1034/j.1399-0004.1999.560407.x","title":"Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women","display_name":"Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women","publication_year":1999,"publication_date":"1999-10-01","ids":{"openalex":"https://openalex.org/W2004500080","doi":"https://doi.org/10.1034/j.1399-0004.1999.560407.x","mag":"2004500080","pmid":"https://pubmed.ncbi.nlm.nih.gov/10636448"},"language":"en","primary_location":{"id":"doi:10.1034/j.1399-0004.1999.560407.x","doi":"https://doi.org/10.1034/j.1399-0004.1999.560407.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.1999.560407.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5077848934","display_name":"John J.P. Kastelein","orcid":"https://orcid.org/0000-0003-2018-4532","observed_orcids":["https://orcid.org/0000-0003-2018-4532"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"John Jp Kastelein","raw_affiliation_strings":["Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands. johnjpk@worldonline.nl","Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands. johnjpk@worldonline.nl","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018093575","display_name":"Jos\u00e9 Mar\u00eda Ordov\u00e1s","orcid":"https://orcid.org/0000-0002-7581-5680","observed_orcids":["https://orcid.org/0000-0002-7581-5680"]},"institutions":[{"id":"https://openalex.org/I121934306","display_name":"Tufts University","ror":"https://ror.org/05wvpxv85","country_code":"US","type":"education","lineage":["https://openalex.org/I121934306"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jose M Ordovas","raw_affiliation_strings":["Lipid Metabolism Laboratory, US Department of Agriculture, Human Nutrition Research, Center on Aging at TUFTS, University, Boston, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lipid Metabolism Laboratory, US Department of Agriculture, Human Nutrition Research, Center on Aging at TUFTS, University, Boston, USA,","institution_ids":["https://openalex.org/I121934306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112724711","display_name":"Marianne E. Wittekoek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marianne E Wittekoek","raw_affiliation_strings":["Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands,","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109917275","display_name":"Simon Neil Pimstone","orcid":"https://orcid.org/0009-0006-0319-7410","observed_orcids":["https://orcid.org/0009-0006-0319-7410"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Simon N Pimstone","raw_affiliation_strings":["Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada","institution_ids":["https://openalex.org/I141945490"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000776451","display_name":"Peter W.F. Wilson","orcid":"https://orcid.org/0000-0002-5653-7056","observed_orcids":["https://orcid.org/0000-0002-5653-7056"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]},{"id":"https://openalex.org/I4210106489","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489"]},{"id":"https://openalex.org/I4210123017","display_name":"Framingham Heart Study","ror":"https://ror.org/031grv205","country_code":"US","type":"facility","lineage":["https://openalex.org/I111088046","https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489","https://openalex.org/I4210123017"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter Wf Wilson","raw_affiliation_strings":["Framingham Heart Study, National Heart, Lung and Blood Institute and Boston University, Boston, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Framingham Heart Study, National Heart, Lung and Blood Institute and Boston University, Boston, USA,","institution_ids":["https://openalex.org/I111088046","https://openalex.org/I4210106489","https://openalex.org/I4210123017"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103725997","display_name":"S\u00e9verine Gagn\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"S Eric Gagn\u00e9","raw_affiliation_strings":["Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada","institution_ids":["https://openalex.org/I141945490"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064623534","display_name":"Martin G. Larson","orcid":"https://orcid.org/0000-0002-9631-1254","observed_orcids":["https://orcid.org/0000-0002-9631-1254"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]},{"id":"https://openalex.org/I4210106489","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489"]},{"id":"https://openalex.org/I4210123017","display_name":"Framingham Heart Study","ror":"https://ror.org/031grv205","country_code":"US","type":"facility","lineage":["https://openalex.org/I111088046","https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489","https://openalex.org/I4210123017"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Martin G Larson","raw_affiliation_strings":["Framingham Heart Study, National Heart, Lung and Blood Institute and Boston University, Boston, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Framingham Heart Study, National Heart, Lung and Blood Institute and Boston University, Boston, USA,","institution_ids":["https://openalex.org/I111088046","https://openalex.org/I4210106489","https://openalex.org/I4210123017"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Ernest J Schaefer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121934306","display_name":"Tufts University","ror":"https://ror.org/05wvpxv85","country_code":"US","type":"education","lineage":["https://openalex.org/I121934306"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ernest J Schaefer","raw_affiliation_strings":["Lipid Metabolism Laboratory, US Department of Agriculture, Human Nutrition Research, Center on Aging at TUFTS, University, Boston, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lipid Metabolism Laboratory, US Department of Agriculture, Human Nutrition Research, Center on Aging at TUFTS, University, Boston, USA,","institution_ids":["https://openalex.org/I121934306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087653861","display_name":"Jolanda M.A. Boer","orcid":"https://orcid.org/0000-0002-9714-4304","observed_orcids":["https://orcid.org/0000-0002-9714-4304"]},"institutions":[{"id":"https://openalex.org/I4210104433","display_name":"National Institute for Public Health and the Environment","ror":"https://ror.org/01cesdt21","country_code":"NL","type":"facility","lineage":["https://openalex.org/I4210104433"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jolanda Ma Boer","raw_affiliation_strings":["Department of Chronic Diseases and Environmental Epidemiology, National Institute of Public Health and Environment, Bilthoven, The Netherlands,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chronic Diseases and Environmental Epidemiology, National Institute of Public Health and Environment, Bilthoven, The Netherlands,","institution_ids":["https://openalex.org/I4210104433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011262366","display_name":"Christian Gerdes","orcid":"https://orcid.org/0000-0001-7658-109X","observed_orcids":["https://orcid.org/0000-0001-7658-109X"]},"institutions":[{"id":"https://openalex.org/I2802335433","display_name":"Aarhus University Hospital","ror":"https://ror.org/040r8fr65","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802335433"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Christian Gerdes","raw_affiliation_strings":["Department of Medicine and Cardiology, A\u030aarhus University Hospital, A\u030aarhus, The Netherlands","Department of Medicine and Cardiology, \u00c5arhus University Hospital, \u00c5arhus, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Cardiology, A\u030aarhus University Hospital, A\u030aarhus, The Netherlands","institution_ids":["https://openalex.org/I2802335433"]},{"raw_affiliation_string":"Department of Medicine and Cardiology, \u00c5arhus University Hospital, \u00c5arhus, The Netherlands","institution_ids":["https://openalex.org/I2802335433"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047722409","display_name":"Michael R. Hayden","orcid":"https://orcid.org/0000-0001-5159-1419","observed_orcids":["https://orcid.org/0000-0001-5159-1419"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michael R Hayden","raw_affiliation_strings":["Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of British Columbia, Vancouver, BC Canada","institution_ids":["https://openalex.org/I141945490"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5077848934"],"corresponding_institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":3.3924,"has_fulltext":false,"cited_by_count":57,"citation_normalized_percentile":{"value":0.92583783,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"56","issue":"4","first_page":"297","last_page":"305"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T12975","display_name":"Paraoxonase enzyme and polymorphisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/lipoprotein-lipase","display_name":"lipoprotein lipase","score":0.9710000157356262},{"id":"https://openalex.org/keywords/lpl-gene-mutations","display_name":"LPL gene mutations","score":0.8579999804496765},{"id":"https://openalex.org/keywords/plasma-lipids","display_name":"plasma lipids","score":0.6990000009536743},{"id":"https://openalex.org/keywords/hdl-cholesterol","display_name":"HDL cholesterol","score":0.8859999775886536},{"id":"https://openalex.org/keywords/triglycerides","display_name":"triglycerides","score":0.9959999918937683},{"id":"https://openalex.org/keywords/coronary-heart-disease-risk","display_name":"coronary heart disease risk","score":0.7730000019073486},{"id":"https://openalex.org/keywords/genetic-dyslipidemia","display_name":"genetic dyslipidemia","score":0.8009999990463257},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.6299999952316284},{"id":"https://openalex.org/keywords/framingham-offspring-study","display_name":"Framingham Offspring Study","score":0.8320000171661377},{"id":"https://openalex.org/keywords/cardiovascular-risk-factors","display_name":"cardiovascular risk factors","score":0.4740000069141388},{"id":"https://openalex.org/keywords/familial-hypertriglyceridemia","display_name":"familial hypertriglyceridemia","score":0.6610000133514404},{"id":"https://openalex.org/keywords/familial-combined-hyperlipidemia","display_name":"familial combined hyperlipidemia","score":0.718999981880188}],"concepts":[{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.8544148206710815},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.7645221948623657},{"id":"https://openalex.org/C94879076","wikidata":"https://www.wikidata.org/wiki/Q420014","display_name":"Lipoprotein lipase","level":3,"score":0.6108418703079224},{"id":"https://openalex.org/C2778913445","wikidata":"https://www.wikidata.org/wiki/Q186319","display_name":"Triglyceride","level":3,"score":0.6017295718193054},{"id":"https://openalex.org/C2780213950","wikidata":"https://www.wikidata.org/wiki/Q908765","display_name":"Hepatic lipase","level":4,"score":0.5998665690422058},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.5064393281936646},{"id":"https://openalex.org/C112672928","wikidata":"https://www.wikidata.org/wiki/Q239526","display_name":"Offspring","level":3,"score":0.49630481004714966},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4659399092197418},{"id":"https://openalex.org/C2780541478","wikidata":"https://www.wikidata.org/wiki/Q410020","display_name":"High-density lipoprotein","level":3,"score":0.45569270849227905},{"id":"https://openalex.org/C139572402","wikidata":"https://www.wikidata.org/wiki/Q4927820","display_name":"Blood lipids","level":3,"score":0.4482191801071167},{"id":"https://openalex.org/C2780072125","wikidata":"https://www.wikidata.org/wiki/Q28350","display_name":"Lipoprotein","level":3,"score":0.4106171131134033},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.37653693556785583},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35816383361816406},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.35080158710479736},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1976470649242401},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14651760458946228},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.07794904708862305},{"id":"https://openalex.org/C171089720","wikidata":"https://www.wikidata.org/wiki/Q193583","display_name":"Adipose tissue","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D003327","descriptor_name":"Coronary Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008055","descriptor_name":"Lipids","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008055","descriptor_name":"Lipids","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008071","descriptor_name":"Lipoprotein Lipase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008076","descriptor_name":"Cholesterol, HDL","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008076","descriptor_name":"Cholesterol, HDL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012044","descriptor_name":"Regression Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012737","descriptor_name":"Sex Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014280","descriptor_name":"Triglycerides","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D014280","descriptor_name":"Triglycerides","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1034/j.1399-0004.1999.560407.x","doi":"https://doi.org/10.1034/j.1399-0004.1999.560407.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.1999.560407.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:10636448","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10636448","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical genetics","raw_type":"Journal Article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/ccb4af92-4cd5-4523-8f29-b77d29162924","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/two-common-mutations-d9n-n291s-in-lipoprotein-lipase-a-cumulative-analysis-of-their-influence-on-plasma-lipids-and-lipoproteins-in-men-and-women(ccb4af92-4cd5-4523-8f29-b77d29162924).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical genetics, 56(4), 297 - 305. Wiley-Blackwell","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/106f3150-276a-4552-9f45-6e3ebca71530","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/106f3150-276a-4552-9f45-6e3ebca71530","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Kastelein, J J, Ordovas, J M, Wittekoek, M E, Pimstone, S N, Wilson, W F, Gagn\u00e9, S E, Larson, M G, Schaefer, E J, Boer, J M, Gerdes, C & Hayden, M R 1999, 'Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women', Clinical genetics, vol. 56, no. 4, pp. 297-305. https://doi.org/10.1034/j.1399-0004.1999.560407.x","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:rivm.openrepository.com:10029/638188","doi":null,"is_oa":false,"landing_page_url":"https://rivm.openrepository.com/handle/10029/638188","pdf_url":null,"source":{"id":"https://openalex.org/S4306401814","display_name":"Rivm Repository (Netherlands National Institute for Public Health and the Environment)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210104433","host_organization_name":"National Institute for Public Health and the Environment","host_organization_lineage":["https://openalex.org/I4210104433"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.7900000214576721,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320307845","display_name":"Heart and Stroke Foundation of Canada","ror":"https://ror.org/00qbpyp73"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":44,"referenced_works":["https://openalex.org/W1860487341","https://openalex.org/W1968632832","https://openalex.org/W1973948212","https://openalex.org/W1974736348","https://openalex.org/W1979352055","https://openalex.org/W1980173564","https://openalex.org/W1981922360","https://openalex.org/W1995915856","https://openalex.org/W2000081470","https://openalex.org/W2001255603","https://openalex.org/W2005337337","https://openalex.org/W2007542782","https://openalex.org/W2011468836","https://openalex.org/W2014232335","https://openalex.org/W2016615532","https://openalex.org/W2020661032","https://openalex.org/W2026800902","https://openalex.org/W2067131992","https://openalex.org/W2077247955","https://openalex.org/W2081825726","https://openalex.org/W2082953323","https://openalex.org/W2093355387","https://openalex.org/W2105541763","https://openalex.org/W2107095782","https://openalex.org/W2116404316","https://openalex.org/W2117933266","https://openalex.org/W2118355993","https://openalex.org/W2129501612","https://openalex.org/W2134093194","https://openalex.org/W2140940344","https://openalex.org/W2145291548","https://openalex.org/W2152316341","https://openalex.org/W2154006542","https://openalex.org/W2163390058","https://openalex.org/W2182397397","https://openalex.org/W2188150104","https://openalex.org/W2189491249","https://openalex.org/W2199595243","https://openalex.org/W2211287272","https://openalex.org/W2348775399","https://openalex.org/W2431855112","https://openalex.org/W2435745310","https://openalex.org/W2797829289","https://openalex.org/W4232807629"],"related_works":["https://openalex.org/W2067131992","https://openalex.org/W2113541456","https://openalex.org/W2081825726","https://openalex.org/W2138385502","https://openalex.org/W2113155747","https://openalex.org/W1521354218","https://openalex.org/W2129501612","https://openalex.org/W7028735909","https://openalex.org/W1981922360","https://openalex.org/W7039419071"],"abstract_inverted_index":{"We":[0,69],"assessed":[1],"the":[2,9,41,54,100,103,143,175,264,291],"effect":[3],"of":[4,29,33,62,77,168,171,174,182,290,297],"two":[5,50],"common":[6,288],"mutations":[7,88],"in":[8,25,81,89,302],"lipoprotein":[10,300],"lipase":[11],"gene":[12,293],"(LPL),":[13],"D9N":[14,104,176,268],"and":[15,36,60,79,83,96,105,124,158,177,203,250,299,305],"N291S,":[16],"which":[17],"have":[18],"been":[19],"shown":[20],"to":[21,272],"modulate":[22],"plasma":[23,58],"lipids":[24,59,78],"a":[26,125,140],"wide":[27],"spectrum":[28],"patients.":[30],"A":[31],"total":[32],"1114":[34],"men":[35,304],"1":[37],"144":[38],"women":[39],"from":[40],"Framingham":[42],"Offspring":[43],"Study":[44],"(FOS)":[45],"were":[46,108,270],"analyzed":[47],"for":[48,85,156,163,267],"these":[49,86],"LPL":[51,87,292],"variants.":[52],"Subsequently,":[53],"association":[55],"with":[56,91,110,228],"fasting":[57],"risk":[61],"coronary":[63],"artery":[64],"disease":[65],"(CHD)":[66],"was":[67,149],"determined.":[68],"extended":[70],"our":[71],"study":[72],"by":[73],"calculating":[74],"weighed":[75],"means":[76],"lipoproteins":[80],"carriers":[82,173,269],"non-carriers":[84,273],"patients":[90,95],"genetic":[92],"dyslipidemias,":[93],"CHD":[94],"healthy":[97],"controls.":[98],"In":[99,138,224],"FOS":[101],"sample,":[102],"N291S":[106,178],"alleles":[107],"associated":[109],"lower":[111,204,251],"high-density":[112],"lipoprotein-cholesterol":[113],"(HDL-C)":[114],"(delta":[115,130,151],"=":[116,122,131,136,152,160,281],"-":[117,153],"0.07":[118],"mmol/":[119,133],"1,":[120,134],"p":[121,135,190,200,212,221,238,247,260,280],"0.03)":[123],"trend":[126,141],"towards":[127,142],"increased":[128],"triglycerides":[129,183],"0.25":[132],"0.07).":[137],"women,":[139],"high":[144],"triglyceride,":[145],"low":[146],"HDL-C":[147,157,205,252,265],"phenotype":[148],"evident":[150],"0.02":[154],"mmol/1":[155],"delta":[159],"0.14":[161],"mmol/l":[162,186,196,208,217,234,243,256,276],"triglycerides,":[164],"respectively).":[165],"Cumulative":[166],"analysis":[167],"other":[169],"studies":[170],"male":[172],"revealed":[179],"higher":[180,229],"levels":[181,231,253,266,301],"(D291N;":[184],"2.60(1.85)":[185],"vs.":[187,197,209,218,235,244,257,277],"1.62(1.18)":[188],"mmol/l:":[189,199,211,220,237,246,259,279],"<":[191,201,213,222,239,248,261],"0.0001)":[192,214],"(D9N;":[193,215,241,274],"1.94":[194],"(1.19)":[195],"1.74(1.17)":[198],"0.001)":[202,240],"(N291S;":[206,232,254],"1.04(0.32)":[207],"1.15(0.28)":[210],"1.08(0.24)":[216],"1.16(0.28)":[219],"0.0001).":[223],"females,":[225],"results":[226],"differed":[227],"TG":[230],"1.70(0.99)":[233],"1.10(0.63)":[236],"1.08(0.76)":[242],"0.96(0.51)":[245],"0.01)":[249],"1.27(0.33)":[255],"1.51(0.32)":[258],"0.0001);":[262],"however,":[263],"similar":[271],"1.52(0.29)":[275],"1.53(0.35)":[278],"0.83).":[282],"Our":[283],"data":[284],"provide":[285],"evidence":[286],"that":[287],"variants":[289],"are":[294],"significant":[295],"modulators":[296],"lipid":[298],"both":[303],"women.":[306]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}