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Updated: Jun 11, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Genetic variants in patients with multiple arterial aneurysms
Daniel Körfer1, Caspar Grond-Ginsbach2, Andreas S Peters2,3
1Department of Vascular and Endovascular Surgery, Heidelberg University Hospital, Im Neuenheimer Feld 420, 69120, Heidelberg, Germany. Daniel.Koerfer@med.uni-heidelberg.de.
Langenbeck'S Archives of Surgery
|October 9, 2024
Summary
Genetic variants in vascular disease genes were found in patients with multiple arterial aneurysms. Whole exome sequencing (WES) can help identify these germline variants for improved clinical management.
Area of Science:
- Genetics
- Vascular Biology
- Medical Diagnostics
Background:
- Multiple arterial aneurysms can indicate underlying genetic predispositions.
- Identifying causal genetic variants is crucial for understanding disease mechanisms and improving patient care.
Purpose of the Study:
- To identify causal genetic variants in patients presenting with multiple arterial aneurysms.
- To explore the genetic basis of arterial aneurysm formation in a selected patient cohort.
Main Methods:
- Whole exome sequencing (WES) was performed on nine patients with multiple arterial aneurysms.
- Candidate variants were selected based on in silico predictions and filtered against gnomAD allele frequencies.
- GeneCards and MalaCards databases were used to correlate variants with vascular diseases.
Main Results:
- Twenty-four variants in 23 different genes associated with vascular diseases were identified.
- Specific variants were found in SMAD3 (associated with Loeys-Dietz syndrome 3), TNXB (associated with Ehlers-Danlos syndrome), and TET2/PPM1D (associated with CHIP).
- All nine patients carried variants in genes linked to vascular diseases, though pathogenicity requires further investigation.
Conclusions:
- Patients with multiple arterial aneurysms harbor variants in vascular disease-associated genes.
- Further research is needed to understand the pathogenicity of identified variants.
- Whole exome sequencing (WES) is recommended for patients with multiple arterial aneurysms to guide clinical management.
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