Original Title: Estudio molecular de los polimorfismos comunes del gen apoE asociados con disbetalipoproteinemia familiar y la enfermedad de Alzheimer de inicio tardío

Authors' objectives: The objectives of this report were to evaluate apoE determination by qPCR in the diagnosis of familial dysbetalipoproteinemia; and its integration as a predictive factor within a prognostic model with the aim of establishing the risk of late-onset Alzheimer’s disease. This report aims to evaluate the use of this technology in the described context, and its comparison with other genetic (and/or phenotypic, in the case of familial dysbetalipoproteinemia) techniques.

Authors' results and conclusions: The apoE gene plays an important biological role in human lipid metabolism, which has led to the development of different techniques to analyse its polymorphisms and the isoforms generated. There is insufficient scientific evidence to support the use of the qPCR technique as an apoE genotyping method in daily clinical practice or as an added value within a diagnostic algorithm for familial dysbetalipoproteinemia, or as a determination to be incorporated into a prognostic model for early detection of late-onset Alzheimer’s disease, compared to other genotyping techniques currently available. In the context an environment of precision medicine, and independently of the genotyping technique used to characterize the apoE gene; the availability of having this information may be relevant for to, in an individualized manner, people with manifestations and/or biochemical lipid alterations, can early adoption therapeutic measures in the case of homozygous familial dysbetalipoproteinemia. For people suspected of having late-onset Alzheimer’s disease (60 years of age or older), the implementation of measures to modify the risk factors that may be under the control of the person and their family members, taking into account the resources available in their environment in order to adequately inform the person and access them, if necessary.

Authors' methods: Systematic review of the scientific evidence evaluating the use of qPCR for apoE genotyping in the described context. The following databases were consulted: Medline, Embase, The Cochrane Library, Web of Science, International HTA Database and TESEO. In addition, a search for ongoing clinical trials were also conducted: ClinicalTrial.gov, Current Controlled Trial (ISRCTN registry), International Clinical Trials Registry Platform (WHO) and EU Clinical Trials Register.

Project Status: Completed

Year Published: 2023

URL for published report: https://doi.org/10.46994/ets_36

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Spain

DOI: 10.46994/ets_36

Organisation Name: Health Sciences Institute in Aragon (IACS)

Contact Address: Avda, San Juan Bosco, 13, planta 2

Contact Name: María Pilar Calvo Pérez

Contact Email: direccion.iacs@aragon.es