Universität zu Köln

Rodrigues, Rute, Artieda, Marta, Tejedor, Diego, Martinez, Antonio, Konstantinova, Pavlina, Petry, Harald, Meyer, Christian, Corzo, Deyanira, Sundgreen, Claus, Klor, Hans U., Gouni-Berthold, Ioanna, Westphal, Sabine, Steinhagen-Thiessen, Elisabeth, Julius, Ulrich, Winkler, Karl, Stroes, Erik, Vogt, Anja, Hardt, Phillip, Prophet, Heinrich, Otte, Britta, Nordestgaard, Borge G., Deeb, Samir S. and Brunzell, John D. (2016). Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. J. Clin. Lipidol., 10 (2). S. 394 - 410. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-4789

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Abstract

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a serious lipid disorder of severe hypertriglyceridemia (SHTG) with chylomicronemia. A large number of variants in the LPL gene have been reported but their influence on LPL activity and SHTG has not been completely analyzed. Gaining insight into the deleterious effect of the mutations is clinically essential. METHODS: We used gene sequencing followed by in-vivo/in-vitro and in-silico tools for classification. We classified 125 rare LPL mutations in 33 subjects thought to have LPL deficiency and in 314 subjects selected for very SHTG. RESULTS: Of the 33 patients thought to have LPL deficiency, only 13 were homozygous or compound heterozygous for deleterious mutations in the LPL gene. Among the 314 very SHTG patients, 3 were compound heterozygous for pathogenic mutants. In a third group of 51,467 subjects, from a general population, carriers of common variants, Asp9Asn and Asn291Ser, were associated with mild increase in triglyceride levels (11%-35%). CONCLUSION: In total, 39% of patients clinically diagnosed as LPL deficient had 2 deleterious variants. Three patients selected for very SHTG had LPL deficiency. The deleterious mutations associated with LPL deficiency will assist in the diagnosis and selection of patients as candidates for the presently approved LPL gene therapy. (C) 2016 National Lipid Association. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rodrigues, Rute UNSPECIFIED UNSPECIFIED UNSPECIFIED Artieda, Marta UNSPECIFIED UNSPECIFIED UNSPECIFIED Tejedor, Diego UNSPECIFIED UNSPECIFIED UNSPECIFIED Martinez, Antonio UNSPECIFIED UNSPECIFIED UNSPECIFIED Konstantinova, Pavlina UNSPECIFIED UNSPECIFIED UNSPECIFIED Petry, Harald UNSPECIFIED UNSPECIFIED UNSPECIFIED Meyer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Corzo, Deyanira UNSPECIFIED UNSPECIFIED UNSPECIFIED Sundgreen, Claus UNSPECIFIED UNSPECIFIED UNSPECIFIED Klor, Hans U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gouni-Berthold, Ioanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Westphal, Sabine UNSPECIFIED UNSPECIFIED UNSPECIFIED Steinhagen-Thiessen, Elisabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Julius, Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Winkler, Karl UNSPECIFIED UNSPECIFIED UNSPECIFIED Stroes, Erik UNSPECIFIED UNSPECIFIED UNSPECIFIED Vogt, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED Hardt, Phillip UNSPECIFIED UNSPECIFIED UNSPECIFIED Prophet, Heinrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Otte, Britta UNSPECIFIED UNSPECIFIED UNSPECIFIED Nordestgaard, Borge G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Deeb, Samir S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brunzell, John D. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-280510
DOI:	10.1016/j.jacl.2015.12.015
Journal or Publication Title:	J. Clin. Lipidol.
Volume:	10
Number:	2
Page Range:	S. 394 - 410
Date:	2016
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	1876-4789
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LIPOPROTEIN-LIPASE GENE; CORONARY-ARTERY-DISEASE; AMINO-ACID SUBSTITUTION; C-TERMINAL DOMAIN; FAMILIAL COMBINED HYPERLIPIDEMIA; LINKED GLYCOSYLATION SITE; GENOME-WIDE ASSOCIATION; ISCHEMIC-HEART-DISEASE; IN-VITRO EXPRESSION; MISSENSE MUTATION Multiple languages Pharmacology & Pharmacy Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28051