Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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
_version_ 1784761082479378432
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
work_keys_str_mv AT nurmmiriam dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT reigoanu dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT noukasmargit dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT leitsaluliis dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT nikopensiustiit dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT palovermarili dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT annilotarmo dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT alvermaris dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT saaraet dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT maranditoomas dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT ainlatiia dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT metspaluandres dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT eskotonu dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia
AT tonissonneeme dobiobankrecallstudiesmatterlongtermfollowupofresearchparticipantswithfamilialhypercholesterolemia