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• W2033994925 abstract "La hiperlipoproteinemia tipo III (HLP tipo III) se caracteriza por el catabolismo reducido y la acumulación de lipoproteínas remanentes. La mayoría de pacientes con HLP tipo III son homocigotos para el alelo de la apolipoproteína (apo) є2 (Cys112, Cys158). Sin embargo, se han descrito otras variantes de apo E que, en heterocigosidad, están asociadas con HLP tipo III. Recientemente hemos identificado una de estas variantes, apo E 2 Arg136Ser. Con objeto de analizar su prevalencia y de profundizar en el conocimiento de las características hereditarias de la HLP tipo III asociada a esta variante, hemos determinado, utilizando la reacción en cadena de la polimerasa (PCR) y análisis de restricción, los genotipos de apo Å en 230 pacientes con hiperlipemia mixta y en 1.202 muestras de ADN de sujetos procedentes de la Comunidad Autónoma de Aragón: 103 recién nacidos y 1.109 sujetos de edades comprendidas entre 2 y 92 años. La frecuencia estimada del alelo apo є2 Arg136Ser fue de 0,0037. Hemos identificado a un total de 43 sujetos portadores de esta variante, 17 de los cuales (39%) tenían HLP tipo III. La mutación se asocia con dominancia parcial de HLP tipo III, y la expresión de la hiperlipemia en los sujetos portadores depende, entre otros factores, de la edad, índice de masa corporal y sexo. La variante apo E 2 Arg136Ser es aparentemente frecuente en nuestra población y está asociada con HLP tipo III y dominancia incompleta. Type III hyperlipoproteinemia (type III HLP) is characterized by reduced catabolism and accumulation of remnant lipoprotein particles. Most type III HLP patients are homozygous for the apolipoprotein (apo) є2 (Cys112, Cys158) allele. However, several other rare variants at this locus have been associated in heterozygous state with type III HLP. Recently, one of these variants, apo E 2 Arg136Ser has been identified in Spanish population and reported to be associated with type III HLP. In order to assess the prevalence of this rare variant in our population and the inheritance characteristics of type III HLP linked to this apo E variant, we have examined the apo Å genotype by restriction enzyme analysis of polymerase chain reaction (PCR) product in 230 patients with mixed hyperlipidemia and 1,202 subjects from the Comunidad Autónoma de Aragón (Spain): 103 unrelated newborns and 1,109 subjects (2-92 years old). The estimated apo є2 Arg136Ser allele frequency in this population was 0.0037. We have identified 43 carriers of the apo є2 Arg136Ser allele, and 39% of them disclose type III HLP. This mutation is associated with partial dominance of type III HLP and expression of hyperlipidemia in carriers shows different penetration depending on age, body mass index and gender. The apo E 2 Arg136Ser variant might be frequent in our population and it is associated with incomplete dominance of type III HLP." @default.
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• W2033994925 date "2001-01-01" @default.
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• W2033994925 title "Apolipoproteína E Arg136Ser: una variante de apolipoproteína E asociada a hiperlipoproteinemia tipo III con herencia autosómica dominante incompleta" @default.
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• W2033994925 doi "https://doi.org/10.1016/s0214-9168(01)78754-2" @default.
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