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Journals / Marmara Medical Journal / 2021 / Volume: 34 Issue: 3

Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)

Hande Kaymakcalan(Demiroglu Science University)
Hande Alp(PRIVATE CLINIC)
Ahmet Okay Caglayan(DOKUZ EYLUL UNIVERSITY)
Okan Gulbahar(EGE UNIVERSITY)
Emine Nihal Gokmen(EGE UNIVERSITY)
Emrah Nıkerel(YEDITEPE UNIVERSITY)
Pages
—
Publication Date
2021-10-27
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

These variants need to be replicated in larger cohorts and studied at the functional level to verify our findings.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Hereditary angioedema ( HAE) with normal C1 inhibitor (HAE-nC1-INH), is a genetically complex, rare disease and mutations in F12, ANGPT1, PLG, MYOF genes are found in some families with HAE-nC1-INH.
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Key Findings & Data:Patients and Methods: Nine patients from 8 families between the ages of 3 to 63 years with U-HAE and 6 controls were enrolled for the study and whole exome sequencing were performed.
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Conclusion & Impact:These variants need to be replicated in larger cohorts and studied at the functional level to verify our findings.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Hereditary angioedema of unknown cause ( U-HAE) · Whole exome sequencing (WES ) · Genetic

Abstract

Objective: Hereditary angioedema ( HAE) with normal C1 inhibitor (HAE-nC1-INH), is a genetically complex, rare disease and mutations in F12, ANGPT1, PLG, MYOF genes are found in some families with HAE-nC1-INH. However, often a specific mutation cannot be identified and this type is called as hereditary angioedema of unknown cause (U-HAE). Our aim was to identify putative causative genetic alterations and/or pathways by whole exome sequencing in patients with U-HAE. Patients and Methods: Nine patients from 8 families between the ages of 3 to 63 years with U-HAE and 6 controls were enrolled for the study and whole exome sequencing were performed. Results: No significant difference was found between the case and control group for the a priori suspected set of genes. Variants in the genes; RAMP2, IL6, GP1BA, C1QBP were significantly different between U-HAE and control group. Downstream functional analysis found that blood coagulation pathways were enriched in these genes. Conclusion: Proteins that are not involved in contact pathways may also play a role in U-HAE. These variants need to be replicated in larger cohorts and studied at the functional level to verify our findings.

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Cite This Article

Kaymakcalan, H., Alp, H., Caglayan, A. O., Gulbahar, O., Gokmen, E. N., Nıkerel, E. (2021). Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE). Marmara Medical Journal, Volume: 34 Issue: 3. https://doi.org/10.5472/marumj.1009115

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