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Founder Effects in Hereditary Hemorrhagic Telangiectasia
Tamás Major1, Réka Gindele2, Gábor Balogh2
1Division of Otorhinolaryngology and Head & Neck Surgery, Kenézy Gyula Campus, University of Debrecen Medical Center, H-4031 Debrecen, Hungary.
Journal of Clinical Medicine
|April 30, 2021
Summary
Founder effects, where specific gene variants are more common in certain populations, are identified in hereditary hemorrhagic telangiectasia (HHT). Understanding these genetic patterns can aid in HHT diagnosis and research.
Area of Science:
- Genetics
- Population Genetics
- Medical Genetics
Background:
- Founder effects arise from population bottlenecks or new population establishment, leading to increased allele frequencies due to genetic drift.
- Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder with sporadically reported founder effects.
- Genetic variations in ACVRL1, ENG, and SMAD4 genes are associated with HHT.
Purpose of the Study:
- To systematically review and identify founder effects in hereditary hemorrhagic telangiectasia (HHT).
- To analyze the impact of founder effects on HHT prevalence and phenotype.
- To explore the utility of recognizing founder effects for HHT diagnosis and research.
Main Methods:
- Systematic literature review of publications from ACVRL1, ENG, and SMAD4 Mutation Databases.
- Searched PubMed and Scopus for terms related to HHT and founder effects.
- Extracted and reviewed 67 publications (1992-2020), grading founder effects based on ancestry, haplotypes, genealogy, and prevalence.
Main Results:
- Identified 26 ACVRL1 variants and 12 ENG variants with potential founder effects.
- Larger clusters of families with founder mutations significantly influence the populational ACVRL1/ENG ratio and HHT phenotype.
- Founder effects impact the genetic landscape of HHT in various populations.
Conclusions:
- Awareness of founder effects can simplify HHT diagnosis through localized genetic algorithms.
- Shared core haplotypes in families with HHT may facilitate the study of second-hit events in disease etiology.
- Founder effects are a significant factor in the genetic architecture and clinical presentation of HHT.
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