Particularidades genéticas y bioquímicas de la hipercolesterolemia familiar en el suroeste de la Península Ibérica

  1. Roa Garrido, Jessica 1
  2. Carrasco Salas, Pilar 2
  3. Toscano Pérez, Clara 3
  4. Arrobas Velilla, Teresa
  5. Vázquez Rico, Ignacio 4
  6. Díaz Fernández, José Francisco 5
  1. 1 Unidad de Lípidos y Riesgo Cardiovascular, Servicio de Cardiología, Hospital Juan Ramón Jiménez, Huelva, España
  2. 2 Unidad de Genética, Servicio de Análisis Clínicos, Hospital Juan Ramón Jiménez, Huelva, España
  3. 3 Centro de Investigación en Patrimonio Histórico, Cultural y Natural (CIPHCN), Universidad de Huelva, Huelva, España
  4. 4 Servicio de Análisis Clínicos, Hospital Juan Ramón Jiménez, Huelva, España
  5. 5 Servicio de Cardiología, Hospital Juan Ramón Jiménez, Huelva, España
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Journal:
Clínica e investigación en arteriosclerosis

ISSN: 0214-9168,  1578-1879

Year of publication: 2021

Volume: 33

Issue: 2

Pages: 62-69

Type: Article

DOI: 10.1016/J.ARTERI.2020.08.003 PMID: 33069457 DIALNET GOOGLE SCHOLAR

More publications in: Clínica e investigación en arteriosclerosis

Abstract

So far, most cases of hypercholesterolaemia (60-80%) are attributed to pathogenic variants in the LDLR gene. Only 1-5% of cases are caused by variants in the APOB gene, and 0-3% by variants in the PCSK9 gene. There is a large variety in known pathogenic mutations of the LDLR gene, while for those affecting the APOB gene, the highest incidence is p.Arg3527Gln, described predominantly in Central European and North American populations. In the Iberian Peninsula the predominant gene affected is that of the LDL receptor, similar to the rest of the world, with the involvement of the APOB gene being described in individuals from the northwest, and anecdotal in the rest of the territory. A genetics analysis was performed on the population attending the first year of a lipid clinic in southwestern Spain with a 6-point score from the Dutch lipid clinics. The genetic, biochemical and clinical findings are described. The first findings show indications of a possible higher prevalence of patients with mutation in the APOB gene compared to other territories. Historical evidence is presented that could give a possible explanation to this, thus supporting the assumption.

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Data source: Dialnet