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Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia
Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related genotypes are identified and individuals with those genotypes...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9343846/ https://www.ncbi.nlm.nih.gov/pubmed/35928446 http://dx.doi.org/10.3389/fgene.2022.936131 |
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author | Nurm, Miriam Reigo, Anu Nõukas, Margit Leitsalu, Liis Nikopensius, Tiit Palover, Marili Annilo, Tarmo Alver, Maris Saar, Aet Marandi, Toomas Ainla, Tiia Metspalu, Andres Esko, Tõnu Tõnisson, Neeme |
author_facet | Nurm, Miriam Reigo, Anu Nõukas, Margit Leitsalu, Liis Nikopensius, Tiit Palover, Marili Annilo, Tarmo Alver, Maris Saar, Aet Marandi, Toomas Ainla, Tiia Metspalu, Andres Esko, Tõnu Tõnisson, Neeme |
author_sort | Nurm, Miriam |
collection | PubMed |
description | Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related genotypes are identified and individuals with those genotypes are recalled for consultation to gather more detailed clinical phenotypic information and explain to them the meaning of their genetic findings. Familial hypercholesterolemia (FH) is among the most common autosomal-dominant single-gene disorders, with a global prevalence of 1 in 500 (Nordestgaard et al., Eur. Heart J., 2013, 34 (45), 3478–3490). Untreated FH leads to lifelong elevated LDL cholesterol levels, which can cause ischemic heart disease, with potentially fatal consequences at a relatively early age. In most cases, the pathogenesis of FH is based on a defect in one of three LDL receptor-related genes–APOB, LDLR, and PCSK9. We present our first long-term follow-up RbG study of FH, conducted within the Estonian Biobank (34 recalled participants from a pilot RbG study and 291 controls harboring the same APOB, LDLR, and PCSK9 variants that were included in the pilot study). The participants’ electronic health record data (FH-related diagnoses, lipid-lowering treatment prescriptions) and pharmacogenomic risk of developing statin-induced myopathy were assessed. A survey was administered to recalled participants to discern the impact of the knowledge of their genetic findings on their lives 4–6 years later. Significant differences in FH diagnoses and lipid-lowering treatment prescriptions were found between the recalled participants and controls (34 and 291 participants respectively). Our study highlights the need for more consistent lipid-lowering treatment adherence checkups and encourage more follow-up RbG studies to be performed. |
format | Online Article Text |
id | pubmed-9343846 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93438462022-08-03 Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia Nurm, Miriam Reigo, Anu Nõukas, Margit Leitsalu, Liis Nikopensius, Tiit Palover, Marili Annilo, Tarmo Alver, Maris Saar, Aet Marandi, Toomas Ainla, Tiia Metspalu, Andres Esko, Tõnu Tõnisson, Neeme Front Genet Genetics Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related genotypes are identified and individuals with those genotypes are recalled for consultation to gather more detailed clinical phenotypic information and explain to them the meaning of their genetic findings. Familial hypercholesterolemia (FH) is among the most common autosomal-dominant single-gene disorders, with a global prevalence of 1 in 500 (Nordestgaard et al., Eur. Heart J., 2013, 34 (45), 3478–3490). Untreated FH leads to lifelong elevated LDL cholesterol levels, which can cause ischemic heart disease, with potentially fatal consequences at a relatively early age. In most cases, the pathogenesis of FH is based on a defect in one of three LDL receptor-related genes–APOB, LDLR, and PCSK9. We present our first long-term follow-up RbG study of FH, conducted within the Estonian Biobank (34 recalled participants from a pilot RbG study and 291 controls harboring the same APOB, LDLR, and PCSK9 variants that were included in the pilot study). The participants’ electronic health record data (FH-related diagnoses, lipid-lowering treatment prescriptions) and pharmacogenomic risk of developing statin-induced myopathy were assessed. A survey was administered to recalled participants to discern the impact of the knowledge of their genetic findings on their lives 4–6 years later. Significant differences in FH diagnoses and lipid-lowering treatment prescriptions were found between the recalled participants and controls (34 and 291 participants respectively). Our study highlights the need for more consistent lipid-lowering treatment adherence checkups and encourage more follow-up RbG studies to be performed. Frontiers Media S.A. 2022-07-19 /pmc/articles/PMC9343846/ /pubmed/35928446 http://dx.doi.org/10.3389/fgene.2022.936131 Text en Copyright © 2022 Nurm, Reigo, Nõukas, Leitsalu, Nikopensius, Palover, Annilo, Alver, Saar, Marandi, Ainla, Metspalu, Esko and Tõnisson. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Nurm, Miriam Reigo, Anu Nõukas, Margit Leitsalu, Liis Nikopensius, Tiit Palover, Marili Annilo, Tarmo Alver, Maris Saar, Aet Marandi, Toomas Ainla, Tiia Metspalu, Andres Esko, Tõnu Tõnisson, Neeme Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia |
title | Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia |
title_full | Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia |
title_fullStr | Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia |
title_full_unstemmed | Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia |
title_short | Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia |
title_sort | do biobank recall studies matter? long-term follow-up of research participants with familial hypercholesterolemia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9343846/ https://www.ncbi.nlm.nih.gov/pubmed/35928446 http://dx.doi.org/10.3389/fgene.2022.936131 |
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