{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:13:51Z","timestamp":1787314431855,"version":"build-2736575974"},"reference-count":198,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T00:00:00Z","timestamp":1736035200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Jacob J. Wolfe Distinguished Research Chair in Human Gene Function"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in phenotype severity seen often in a given carrier. Here, we provide an updated overview of genetic variation in LPL in the context of HTG, with a focus on disease-causing and\/or disease-associated variants. We provide a curated list of 300 disease-causing variants discovered in LPL, as well as an exon-by-exon breakdown of the LPL gene and protein, highlighting the impact of variants and the various functional residues of domains of the LPL protein. We also provide a curated list of variants of unknown or uncertain significance, many of which may be upgraded to pathogenic\/likely pathogenic classification should an additional case and\/or segregation data be reported. Finally, we also review the association between benign\/likely benign variants in LPL, many of which are common polymorphisms, and the TG phenotype.<\/jats:p>","DOI":"10.3390\/genes16010055","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T09:17:02Z","timestamp":1736155022000},"page":"55","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Lipoprotein Lipase: Structure, Function, and Genetic Variation"],"prefix":"10.3390","volume":"16","author":[{"given":"Shehan","family":"Perera","sequence":"first","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6759-0522","authenticated-orcid":false,"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7836-5187","authenticated-orcid":false,"given":"Adam","family":"McIntyre","sequence":"additional","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2861-5325","authenticated-orcid":false,"given":"Robert","family":"Hegele","sequence":"additional","affiliation":[{"name":"Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada"},{"name":"Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond Street North, London, ON N6A 5B7, Canada"},{"name":"Department of Medicine, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond Street North, London, ON N6A 5B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1101\/gad.209296.112","article-title":"Biochemistry and Pathophysiology of Intravascular and Intracellular Lipolysis","volume":"27","author":"Young","year":"2013","journal-title":"Genes. 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