Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/2138
DC Field | Value | Language |
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dc.contributor.author | Bañares, Virginia | es |
dc.contributor.author | Corral, Pablo | es |
dc.contributor.author | Medeiros, Ana Margarida | es |
dc.contributor.author | Araujo, Maria B | es |
dc.contributor.author | Lozada, Alfredo | es |
dc.contributor.author | Bustamante, Juan | es |
dc.contributor.author | Cerretini, Roxana | es |
dc.contributor.author | Lopez, Graciela I | es |
dc.contributor.author | Bourbon, Mafalda | es |
dc.contributor.author | Schreier, L. | es |
dc.date.accessioned | 2021-01-14T04:09:16Z | - |
dc.date.available | 2021-01-14T04:09:16Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1933-2874 | - |
dc.identifier.uri | http://sgc.anlis.gob.ar/handle/123456789/2138 | - |
dc.description | Fil: Bañares, Virginia G. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. Departamento de Genética Experimental; Argentina. | es |
dc.description | Fil: Corral, Pablo. Universidad FASTA. Facultad de Medicina. Departamento Investigación; Argentina. | es |
dc.description | Fil: Medeiros, Ana Margarida. Instituto Nacional de Saúde Dr Ricardo Jorge. Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis. Grupo de Investigação Cardiovascular. University of Lisbon. BioISI - Biosystems & Integrative Sciences Institute. Faculty of Sciences; Portugal. | es |
dc.description | Fil: Araujo, Maria Beatriz. Hospital Garrahan. Servicio de Nutrición, Ciudad Autónoma de Buenos Aires; Argentina. | es |
dc.description | Fil: Lozada, Alfredo. Universidad Austral. Clínica de Lípidos; Argentina. | es |
dc.description | Fil: Bustamante, Juan. IQUIBICEN-CONICET. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica. Universidad Nacional de Entre Ríos. Facultad de Ingeniería; Argentina. | es |
dc.description | Fil: Cerretini, Roxana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. Departamento de Genética Experimental; Argentina. | es |
dc.description | Fil: Lopez, Graciela I. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica. Laboratorio de Lípidos y Aterosclerosis; Argentina; Universidad de Buenos Aires, Instituto de Fisiopatologia y Bioquímica Clinica - INFIBIOC; Argentina. | es |
dc.description | Fil: Bourbon, Mafalda. Instituto Nacional de Saúde Dr Ricardo Jorge. Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis. Grupo de Investigação Cardiovascular. University of Lisbon. BioISI - Biosystems & Integrative Sciences Institute. Faculty of Sciences; Portugal. | es |
dc.description | Fil: Schreier, Laura E. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica. Laboratorio de Lípidos y Aterosclerosis; Argentina; Universidad de Buenos Aires, Instituto de Fisiopatologia y Bioquímica Clinica - INFIBIOC; Argentina. | es |
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. Keywords: APOB; Argentina; Cardiovascular disease; Cardiovascular disease prevention; Cholesterol; Familial hypercholesterolemia; Genetic variants; LDLR gene; Mutations; Public health. | es |
dc.language.iso | en | es |
dc.relation.ispartof | Journal of clinical lipidology | es |
dc.rights | Closed Access | - |
dc.source | Journal of clinical lipidology 2017;11(2):524-531 | - |
dc.source | - | |
dc.subject | Hiperlipoproteinemia Tipo II | es |
dc.subject | Proteína Asociada a Proteínas Relacionadas con Receptor de LDL | es |
dc.subject | Colesterol | es |
dc.subject | Variantes Farmacogenómicas | es |
dc.subject | Mutación | es |
dc.subject | Apolipoproteínas B | es |
dc.subject | Enfermedades Cardiovasculares | es |
dc.subject | Salud Pública | es |
dc.title | Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina | es |
dc.type | Artículo | es |
dc.identifier.doi | 10.1016/j.jacl.2017.02.007 | - |
anlis.essnrd | 1 | - |
item.languageiso639-1 | en | - |
item.openairetype | Artículo | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
crisitem.author.dept | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.dept | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
Appears in Collections: | Publicaciones CeNaGeM |
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