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No differences in FBN1 genotype between men with and without abdominal aortic aneurysm
Jönköping University, School of Health and Welfare, HHJ, Dept. of Natural Science and Biomedicine. Jönköping University, School of Health and Welfare, HHJ. ADULT. Jönköping University, School of Health and Welfare, HHJ. Biomedical Platform. Jönköping University, School of Health and Welfare, HHJ. ARN-J (Aging Research Network - Jönköping).ORCID iD: 0000-0001-5199-1623
Jönköping University, School of Health and Welfare, HHJ, Dept. of Natural Science and Biomedicine. Jönköping University, School of Health and Welfare, HHJ. Biomedical Platform.ORCID iD: 0000-0003-3802-9661
Jönköping University, School of Health and Welfare, HHJ, Dept. of Natural Science and Biomedicine. Jönköping University, School of Health and Welfare, HHJ. Biomedical Platform. Department of Clinical Physiology, County Hospital Ryhov, Jönköping, Sweden.
2023 (English)In: BMC Cardiovascular Disorders, ISSN 1471-2261, E-ISSN 1471-2261, Vol. 23, no 1, article id 36Article in journal (Refereed) Published
Abstract [en]

Background: Abdominal aortic aneurysm (AAA) is an aortic enlargement in which the transverse diameter reaches at least 30 mm. Certain risk factors, such as age, male gender, and smoking, are well known; however, less is known about the genetic factors involved. Fibrillin-1 (FBN1) is a protein that coordinates the deposition of elastin fibres in the extracellular matrix and is therefore likely to affect the elastic properties in the aortic wall. Previously studies have found associations between the FBN1-2/3 genotype and arterial stiffness, but how different FBN1 genotypes, AAA, and arterial stiffness are related has been less frequently investigated. Aim: This study aimed to investigate whether there is a difference in FBN1 genotype between men with and without AAA. A further aim was to study whether the FBN1 genotype affects arterial wall stiffness differently in men with and without AAA. Methods: Pulse wave velocity and FBN1 genotyping were performed in 229 men (159 with AAA, 70 without AAA). Participants were recruited from ultrasound AAA surveillance programs or ongoing ultrasound screening programs from 2011 to 2016. Results: The distribution of the FBN1 genotype in the AAA and control groups were as follows: FBN1-2/2: 62% vs. 64%; FBN1-2/3: 8% vs. 14%; and FBN1-2/4: 30% vs. 21%, respectively. Men with AAA and FBN1-2/2 had increased central pulse wave velocity (p < 0.005) compared to the control group (those without AAA) with the FBN1-2/2 genotype. Conclusion: No differences were found with respect to FBN1 genotypes between men with and without AAA. The development of AAA in men does not appear to be linked to a specific FBN1 genotype. Nevertheless, men with FBN1-2/2 and AAA have increased central arterial stiffness compared to men with the same FBN1 genotype but without AAA.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023. Vol. 23, no 1, article id 36
Keywords [en]
Aorta, Aortic Aneurysm, Abdominal, Fibrillin-1, Genotype, Humans, Male, Pulse Wave Analysis, Risk Factors, FBN1 protein, human, fibrillin 1, abdominal aortic aneurysm, diagnostic imaging, genetics, human, pulse wave, risk factor, Arterial stiffness, FBN1
National Category
Cardiac and Cardiovascular Systems
Identifiers
URN: urn:nbn:se:hj:diva-59719DOI: 10.1186/s12872-023-03068-3ISI: 000916025200001PubMedID: 36670346Scopus ID: 2-s2.0-85146610191Local ID: GOA;;860441OAI: oai:DiVA.org:hj-59719DiVA, id: diva2:1734407
Funder
Futurum - Academy for Health and Care, Jönköping County Council, SwedenKonung Gustaf V:s och Drottning Victorias FrimurarestiftelseMedical Research Council of Southeast Sweden (FORSS), 34931Swedish Heart Lung Foundation, 20130650Swedish Research Council, 12661Available from: 2023-02-06 Created: 2023-02-06 Last updated: 2023-02-16Bibliographically approved

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Åström Malm, IdaDe Basso, RachelBlomstrand, Peter

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BMC Cardiovascular Disorders
Cardiac and Cardiovascular Systems

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