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 : 35 | Download : 8

Publication Date : 2021-10-27

Article Type : Research Paper

Abstract :Objective: Hereditary angioedema insert ignore into journalissuearticles values( HAE); with normal C1 inhibitor insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(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

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