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dc.contributor.author
Bañares, Virginia Gabriela  
dc.contributor.author
Corral, Pablo  
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Medeiros, Ana Margarida  
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Araujo, María Beatriz  
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Lozada, Alfredo  
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Bustamante, Juan Pablo  
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Cerretini, Roxana  
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Lopez, Graciela Ines  
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Bourbon, Mafalda  
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Schreier, Laura Ester  
dc.date.available
2023-09-21T14:47:22Z  
dc.date.issued
2017-03  
dc.identifier.citation
Bañares, Virginia Gabriela; Corral, Pablo; Medeiros, Ana Margarida; Araujo, María Beatriz; Lozada, Alfredo; et al.; Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina; Elsevier Science Inc.; Journal Of Clinical Lipidology; 11; 2; 3-2017; 524-531  
dc.identifier.issn
1933-2874  
dc.identifier.uri
http://hdl.handle.net/11336/212522  
dc.description.abstract
Background Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol and early cardiovascular disease. As cardiovascular disease is a leading cause of mortality in Argentina, early identification of patients with FH is of great public health importance. Objective The aim of our study was to identify families with FH and to approximate to the characterization of the genetic spectrum mutations of FH in Argentina. Methods Thirty-three not related index cases were selected with clinical diagnosis of FH. Genetic analysis was performed by sequencing, multiplex ligation-dependent probe amplification, and bioinformatics tools. Results Twenty genetic variants were identified among 24 cases (73%), 95% on the low-density lipoprotein receptor gene. The only variant on APOB was the R3527Q. Four were novel variants: c.-135C>A, c.170A>C p.(Asp57Ala), c.684G>C p.(Glu228Asp), and c.1895A>T p.(Asn632Ile); the bioinformatics’ analysis revealed clear destabilizing effects for 2 of them. The exon 14 presented the highest number of variants (32%). Four variants were observed in more than 1 case and the c.2043C>A p.(Cys681*) was carried by 18% of index cases. Two true homozygotes, 3 compound heterozygotes, and 1 double heterozygote were identified. Conclusion This study characterizes for the first time in Argentina genetic variants associated with FH and suggest that the allelic heterogeneity of the FH in the country could have 1 relative common low-density lipoprotein receptor mutation. This knowledge is important for the genotype–phenotype correlation and for optimizing both cholesterol-lowering therapies and mutational analysis protocols. In addition, these data contribute to the understanding of the molecular basis of FH in Argentina.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Elsevier Science Inc.  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
APOB  
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ARGENTINA  
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CARDIOVASCULAR DISEASE  
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CARDIOVASCULAR DISEASE PREVENTION  
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CHOLESTEROL  
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FAMILIAL HYPERCHOLESTEROLEMIA  
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GENETIC VARIANTS  
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LDLR GENE  
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MUTATIONS  
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PUBLIC HEALTH  
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Genética Humana  
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Medicina Básica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Preliminary spectrum of genetic variants in familial 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
2023-09-21T11:13:06Z  
dc.journal.volume
11  
dc.journal.number
2  
dc.journal.pagination
524-531  
dc.journal.pais
Países Bajos  
dc.journal.ciudad
Amsterdam  
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  
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Fil: Corral, Pablo. Universidad de la Fraternidad de Agrupaciones "santo Tomas de Aquino". Facultad de Ciencias Medicas.; Argentina  
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Fil: Medeiros, Ana Margarida. Instituto Nacional de Saúde Dr Ricardo Jorge; Portugal  
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Fil: Araujo, María Beatriz. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina  
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Fil: Lozada, Alfredo. Universidad Austral. Hospital Universitario Austral; Argentina  
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Fil: Bustamante, Juan Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales; Argentina  
dc.description.fil
Fil: Cerretini, Roxana. 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: Lopez, Graciela Ines. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina  
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Fil: Bourbon, Mafalda. Instituto Nacional de Saúde Dr Ricardo Jorge; Portugal  
dc.description.fil
Fil: Schreier, Laura Ester. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina  
dc.journal.title
Journal Of Clinical Lipidology  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S1933287417300338  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.jacl.2017.02.007