Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands
INTRODUCTION: Familial hypercholesterolaemia (FH) is the most common monogenic autosomal dominant genetic disorder and is associated with a high risk of premature atherosclerotic cardiovascular disease. The prevalence of FH has been reported to be particularly high in certain founder populations. Th...
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ftpubmed:oai:pubmedcentral.nih.gov:9006835 2023-05-15T16:10:26+02:00 Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands Borg, Sanna á Nielsen, Michael Rene Skjelbo Søgaard, Peter Lundbye-Christensen, Søren Jóanesarson, Jan Zaremba, Tomas Kollslíð, Rudi Schmidt, Erik Berg Joensen, Albert Marni Bork, Christian Sørensen 2022-04-11 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006835/ http://www.ncbi.nlm.nih.gov/pubmed/35414540 https://doi.org/10.1136/bmjopen-2021-050857 en eng BMJ Publishing Group http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006835/ http://www.ncbi.nlm.nih.gov/pubmed/35414540 http://dx.doi.org/10.1136/bmjopen-2021-050857 © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) . CC-BY-NC BMJ Open Cardiovascular Medicine Text 2022 ftpubmed https://doi.org/10.1136/bmjopen-2021-050857 2022-05-08T00:39:35Z INTRODUCTION: Familial hypercholesterolaemia (FH) is the most common monogenic autosomal dominant genetic disorder and is associated with a high risk of premature atherosclerotic cardiovascular disease. The prevalence of FH has been reported to be particularly high in certain founder populations. The population of the Faroe Islands is a founder population, but the prevalence of FH has never been investigated here. We aim to assess the prevalence of FH and to describe the genetic and clinical characteristics and potential causes of FH in the Faroe Islands. Furthermore, we aim to investigate whether indicators of subclinical coronary artery disease are associated with FH. METHODS AND ANALYSIS: The prevalence of FH will be estimated based on an electronic nationwide laboratory database that includes all measurements of plasma lipid levels in the Faroe Islands since 2006. Subsequently, we will identify and invite subjects aged between 18 and 75 years registered with a plasma low-density lipoprotein cholesterol above 6.7 mmol/L for diagnostic evaluation. Eligible FH cases will be matched to controls on age and sex. We aim to include 120 FH cases and 120 controls. Detailed information will be collected using questionnaires and interviews, and a physical examination will be undertaken. An adipose tissue biopsy and blood samples for genetic testing, detailed lipid analyses and samples for storage in a biobank for future research will be collected. Furthermore, FH cases and controls will be invited to have a transthoracic echocardiography and a cardiac CT performed. ETHICS AND DISSEMINATION: The project has been approved by the Ethical Committee and the Data Protection Agency of the Faroe Islands. The project is expected to provide important information, which will be published in international peer-reviewed journals. Text Faroe Islands PubMed Central (PMC) Faroe Islands BMJ Open 12 4 e050857 |
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English |
topic |
Cardiovascular Medicine |
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Cardiovascular Medicine Borg, Sanna á Nielsen, Michael Rene Skjelbo Søgaard, Peter Lundbye-Christensen, Søren Jóanesarson, Jan Zaremba, Tomas Kollslíð, Rudi Schmidt, Erik Berg Joensen, Albert Marni Bork, Christian Sørensen Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands |
topic_facet |
Cardiovascular Medicine |
description |
INTRODUCTION: Familial hypercholesterolaemia (FH) is the most common monogenic autosomal dominant genetic disorder and is associated with a high risk of premature atherosclerotic cardiovascular disease. The prevalence of FH has been reported to be particularly high in certain founder populations. The population of the Faroe Islands is a founder population, but the prevalence of FH has never been investigated here. We aim to assess the prevalence of FH and to describe the genetic and clinical characteristics and potential causes of FH in the Faroe Islands. Furthermore, we aim to investigate whether indicators of subclinical coronary artery disease are associated with FH. METHODS AND ANALYSIS: The prevalence of FH will be estimated based on an electronic nationwide laboratory database that includes all measurements of plasma lipid levels in the Faroe Islands since 2006. Subsequently, we will identify and invite subjects aged between 18 and 75 years registered with a plasma low-density lipoprotein cholesterol above 6.7 mmol/L for diagnostic evaluation. Eligible FH cases will be matched to controls on age and sex. We aim to include 120 FH cases and 120 controls. Detailed information will be collected using questionnaires and interviews, and a physical examination will be undertaken. An adipose tissue biopsy and blood samples for genetic testing, detailed lipid analyses and samples for storage in a biobank for future research will be collected. Furthermore, FH cases and controls will be invited to have a transthoracic echocardiography and a cardiac CT performed. ETHICS AND DISSEMINATION: The project has been approved by the Ethical Committee and the Data Protection Agency of the Faroe Islands. The project is expected to provide important information, which will be published in international peer-reviewed journals. |
format |
Text |
author |
Borg, Sanna á Nielsen, Michael Rene Skjelbo Søgaard, Peter Lundbye-Christensen, Søren Jóanesarson, Jan Zaremba, Tomas Kollslíð, Rudi Schmidt, Erik Berg Joensen, Albert Marni Bork, Christian Sørensen |
author_facet |
Borg, Sanna á Nielsen, Michael Rene Skjelbo Søgaard, Peter Lundbye-Christensen, Søren Jóanesarson, Jan Zaremba, Tomas Kollslíð, Rudi Schmidt, Erik Berg Joensen, Albert Marni Bork, Christian Sørensen |
author_sort |
Borg, Sanna á |
title |
Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands |
title_short |
Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands |
title_full |
Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands |
title_fullStr |
Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands |
title_full_unstemmed |
Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands |
title_sort |
familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the faroe islands |
publisher |
BMJ Publishing Group |
publishDate |
2022 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006835/ http://www.ncbi.nlm.nih.gov/pubmed/35414540 https://doi.org/10.1136/bmjopen-2021-050857 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
BMJ Open |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006835/ http://www.ncbi.nlm.nih.gov/pubmed/35414540 http://dx.doi.org/10.1136/bmjopen-2021-050857 |
op_rights |
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) . |
op_rightsnorm |
CC-BY-NC |
op_doi |
https://doi.org/10.1136/bmjopen-2021-050857 |
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BMJ Open |
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12 |
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4 |
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e050857 |
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