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...

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Vydáno v:Frontiers in genetics Ročník 13; s. 936131
Hlavní autoři: 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
Médium: Journal Article
Jazyk:angličtina
Vydáno: Frontiers Media S.A 19.07.2022
Témata:
biobank to practice
familial hypercholesterolemia (FH)
Genetics
lipid lowering treatment
long-term survey
participant survey
recall-by-genotype
ISSN:1664-8021, 1664-8021
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Shrnutí: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.
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Reviewed by: Urh Groselj, University of Ljubljana, Slovenia
Ornella Guardamagna, University of Turin, Italy
Edited by: Alpo Juhani Vuorio, University of Helsinki, Finland
This article was submitted to Genetics of Common and Rare Diseases, a section of the journal Frontiers in Genetics
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2022.936131