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dc.contributor.author
Corral, Pablo  
dc.contributor.author
Geller, Andrew S.  
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Polisecki, Eliana Y.  
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Lopez, Graciela Ines  
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Bañares, Virginia Gabriela  
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Cacciagiu, Leonardo  
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Berg, Gabriela Alicia  
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Hegele, Robert A.  
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Schaefer, Ernst J.  
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Schreier, Laura Ester  
dc.date.available
2020-03-11T10:42:56Z  
dc.date.issued
2018-10  
dc.identifier.citation
Corral, Pablo; Geller, Andrew S.; Polisecki, Eliana Y.; Lopez, Graciela Ines; Bañares, Virginia Gabriela; et al.; Unusual genetic variants associated with hypercholesterolemia in Argentina; Elsevier Ireland; Atherosclerosis; 277; 10-2018; 256-261  
dc.identifier.issn
0021-9150  
dc.identifier.uri
http://hdl.handle.net/11336/99088  
dc.description.abstract
Background and aims: Marked hypercholesterolemia, defined as low density lipoprotein cholesterol (LDL-C) levels ≥ 190 mg/dL, may be due to LDLR, APOB, and PCSK9 variants. In a recent analysis, only 1.7% of cases had such variants. Our goal was to identify other potential genetic causes of hypercholesterolemia. Methods: In a total of 51,253 subjects with lipid testing, 3.8% had elevated total cholesterol >300 mg/dL and/or LDL-C≥190 mg/dL. Of these, 246 were further studied, and 69 without kidney, liver, or thyroid disease and who met Dutch Lipid Clinic Network criteria of ≥6 points had DNA sequencing done at the LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1, ABCG5, ABCG8, CYP27A1, LIPA, LIPC, LIPG, LPL, and SCARB1 gene loci and also had 10 SNP analysis for a weighted high LDL-C genetic risk score. Results: In the 69 subjects with genetic analyses, the following variants were observed in 37 subjects (53.6%): LDLR (n = 20, 2 novel), ABCG5/8 (n = 7, 2 novel), APOB (n = 3, 1 novel), CYP27A1 (n = 3, 1 novel), LIPA (n = 2, 1 novel), APOE (n = 2), LIPC (n = 1, novel), LIPG (n = 1, novel), and SCARB1 (n = 1); 14 subjects (20.3%) had a high polygenic score, with 4 (5.8%) having no variants. Conclusions: Our data indicate that in addition to variants in LDLR, APOB, PCSK9, APOE, LDLRAP1, and STAP1, variants in ABCG5/8, CYP27A1, LIPA, LIPC, and LIPG may be associated with hypercholesterolemia and such information should be used to optimize therapy.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Elsevier Ireland  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
ARGENTINA  
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FAMILIAL HYPERCHOLESTESTEROLEMIA  
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FH PREVALENCE  
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GENE ANALYSIS  
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LOW DENSITY LIPOPROTEIN CHOLESTEROL  
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Genética Humana  
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Medicina Básica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Unusual genetic variants associated with hypercholesterolemia in Argentina  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2020-03-10T12:23:10Z  
dc.journal.volume
277  
dc.journal.pagination
256-261  
dc.journal.pais
Irlanda  
dc.description.fil
Fil: Corral, Pablo. Universidad Fasta; Argentina  
dc.description.fil
Fil: Geller, Andrew S.. Boston Heart Diagnostics; Estados Unidos  
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Fil: Polisecki, Eliana Y.. Boston Heart Diagnostics; Estados Unidos  
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Fil: Lopez, Graciela Ines. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica; Argentina  
dc.description.fil
Fil: Bañares, Virginia Gabriela. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina  
dc.description.fil
Fil: Cacciagiu, Leonardo. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica; Argentina  
dc.description.fil
Fil: Berg, Gabriela Alicia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina  
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Fil: Hegele, Robert A.. University Western Ontario; Canadá  
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Fil: Schaefer, Ernst J.. Boston Heart Diagnostics; Estados Unidos  
dc.description.fil
Fil: Schreier, Laura Ester. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica; Argentina  
dc.journal.title
Atherosclerosis  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0021915018303198  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.009