- Marmara Medical Journal
- Vol: 34 Issue: 3
- Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
Authors : Hande Kaymakcalan, Hande Alp, Ahmet Okay Caglayan, Okan Gulbahar, Emine Nihal Gokmen, Emrah Nikerel
Pages : 274-278
Doi:10.5472/marumj.1009115
View : 15 | Download : 3
Publication Date : 2021-10-27
Article Type : Research
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.Keywords : Hereditary angioedema of unknown cause ( U-HAE), Whole exome sequencing (WES ), Genetic