Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/58401
Título: Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia
Autores/as: Lamiquiz-Moneo, Itziar
Restrepo-Córdoba, María Alejandra
Mateo-Gallego, Rocío
Bea, Ana María
Alberiche Ruano, Maria Del Pino 
García-Pavía, Pablo
Cenarro, Ana
Martín, Cesar
Civeira, Fernando
Sánchez-Hernández, Rosa María 
Clasificación UNESCO: 320502 Endocrinología
Palabras clave: Familial hypercholesterolemia
STAP1
Mutation-negative familial hypercholesterolemia
Family cosegregation
Fecha de publicación: 2020
Publicación seriada: Atherosclerosis 
Resumen: Background and aims: Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR, APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in the signal transducing adaptor family member STAP1. We aimed at investigating the role of STAP1 mutations in the etiology of FH. Methods: We sequenced LDLR, APOB, PCSK9, LDLRAP1, APOE, LIPA and STAP1 with the LipidInCode platform in 400 unrelated subjects from Spain with a clinical diagnosis of FH. All subjects carrying rare predicted pathogenic variants in STAP1 gene, described as pathogenic by at least three bioinformatic analysis and having an allelic frequency lower than 1% in general population, were selected for family study. Available relatives were recruited, including both hypercholesterolemic and non-hypercholesterolemic family members. Results: Sequencing analysis of STAP1 gene revealed seventeen rare variants, four of them being described as pathogenic by bioinformatic analysis. We studied the cosegregation with hypercholesterolemia of four rare predicted pathogenic variants, c.-60A > G, p.(Arg12His), p.(Glu97Asp), p.(Pro176Ser) in seven families. We did not observe any cosegregation between genotype and phenotype, even carriers of rare variants in STAP1 had lower LDL cholesterol levels than non-carriers. Conclusions: This study analyzes the family cosegregation of four rare predicted pathogenic variants of STAP1, p.(Arg12His), p.(Glu97Asp), p.(Pro176Ser) and c.-60A > G, in seven families, showing absence of cosegregation in all of them. These results would suggest that STAP1 gene is not involved in hypercholesterolemia of these families.
URI: http://hdl.handle.net/10553/58401
ISSN: 0021-9150
DOI: 10.1016/j.atherosclerosis.2019.11.025
Fuente: Atherosclerosis [ISSN 0021-9150], v. 292, p. 143-151
Colección:Artículos
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