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Status: Bibliographieeintrag

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Verfasst von:Körfer, Daniel [VerfasserIn]   i
 Grond-Ginsbach, Caspar [VerfasserIn]   i
 Peters, Andreas [VerfasserIn]   i
 Burkart, Sebastian [VerfasserIn]   i
 Hempel, Maja [VerfasserIn]   i
 Schaaf, Christian P. [VerfasserIn]   i
 Böckler, Dittmar [VerfasserIn]   i
 Erhart, Philipp [VerfasserIn]   i
Titel:Genetic variants in patients with multiple arterial aneurysms
Verf.angabe:Daniel Körfer, Caspar Grond-Ginsbach, Andreas S. Peters, Sebastian Burkart, Maja Hempel, Christian P. Schaaf, Dittmar Böckler, Philipp Erhart
E-Jahr:2024
Jahr:09 October 2024
Umfang:8 S.
Illustrationen:Tabellen
Fussnoten:Gesehen am 02.04.2025
Titel Quelle:Enthalten in: Langenbeck's archives of surgery
Ort Quelle:Berlin : Springer, 1998
Jahr Quelle:2024
Band/Heft Quelle:409(2024), Artikel-ID 304, Seite 1-8
ISSN Quelle:1435-2451
Abstract:Purpose: The aim of this study was to identify causal genetic variants in patients with multiple arterial aneurysms. Methods: From a total cohort of 3107 patients diagnosed with an arterial aneurysm from 2006 to 2016, patients with known hereditary connective tissue diseases, vasculitis, or other arterial pathologies (n = 918) were excluded. Of the remaining cohort (n = 2189), patients with at least 4 aneurysms at different arterial locations (n = 143) were included. Nine blood samples of respective patients were available and derived from the institutional vascular biomaterial bank, and analyzed by whole exome sequencing (WES). Possible candidate variants were selected based on in silico predictions: (I) Truncating variants or (II) Variants that were classified as likely pathogenic (SIFT score < 0.05 or PolyPhen score > 0.9) and with low (< 0.001) or unknown gnomAD allele frequency. The human genome databases GeneCards and MalaCards were used to correlate the variants with regard to possible associations with vascular diseases. Results: A total of 24 variants in 23 different genes associated with vascular diseases were detected in the cohort. One patient with eight aneurysms was heterozygous for a variant in SMAD3, for which pathogenic variants are phenotypically associated with Loeys-Dietz syndrome 3. A heterozygous variant in TNXB was found in a patient with five aneurysms. Homozygous or compound heterozygous pathogenic variants in this gene are associated with Ehlers-Danlos syndrome (classical-like). Another patient with six aneurysms carried two heterozygous TET2 variants together with a heterozygous PPM1D variant. Pathogenic variants in these genes are associated with clonal hematopoiesis of indeterminate potential (CHIP), a known risk factor for cardiovascular disease. Conclusion: All nine patients in this study carried variants in genes associated with vascular diseases. Current knowledge of the specific variants is insufficient to classify them as pathogenic at the present time, underlining the need for a better under- standing of the consequences of genetic variants. WES should be considered for patients with multiple arterial aneurysms to detect germline variants and to improve clinical management for the individual and family members.
DOI:doi:10.1007/s00423-024-03488-5
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

kostenfrei: Volltext: https://doi.org/10.1007/s00423-024-03488-5
 kostenfrei: Volltext: https://link.springer.com/article/10.1007/s00423-024-03488-5
 DOI: https://doi.org/10.1007/s00423-024-03488-5
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Aortic aneurysm
 Ehlers-Danlos syndrome
 Exome sequencing
 Genetic testing
 Genetic variants
 Loeys-Dietz syndrome
 Peripheral arterial aneurysm
K10plus-PPN:1921152435
Verknüpfungen:→ Zeitschrift

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