Abstract
A founder effect can result from the establishment of a new population by individuals from a larger population or bottleneck events. Certain alleles may be found at much higher frequencies because of genetic drift immediately after the founder event. We provide a systematic literature review of the sporadically reported founder effects in hereditary hemorrhagic telangiectasia (HHT). All publications from the ACVRL1, ENG and SMAD4 Mutation Databases and publications searched for terms “hereditary hemorrhagic telangiectasia” and “founder” in PubMed and Scopus, respectively, were extracted. Following duplicate removal, 141 publications were searched for the terms “founder” and “founding” and the etymon “ancest”. Finally, 67 publications between 1992 and 2020 were reviewed. Founder effects were graded upon shared area of ancestry/residence, shared core haplotypes, genealogy and prevalence. Twenty-six ACVRL1 and 12 ENG variants with a potential founder effect were identified. The bigger the cluster of families with a founder mutation, the more remarkable is its influence to the populational ACVRL1/ENG ratio, affecting HHT phenotype. Being aware of founder effects might simplify the diagnosis of HHT by establishing local genetic algorithms. Families sharing a common core haplotype might serve as a basis to study potential second-hits in the etiology of HHT.
Highlights
A founder effect may result from the establishment of a new population by individuals deriving from a much larger population or an extreme reduction in population size
Certain alleles may be found at a higher frequency than previously and can reach even a higher prevalence by genetic drift in the period immediately after the founder event, and later, by inbreeding, in population isolates [1]
The targets of the literature search were (1) all publications referred in the ENG, ACVRL1 and SMAD4 Databases, respectively [26,27,28]; (2) results from PubMed and Scopus for “hereditary hemorrhagic telangiectasia” AND “founder”
Summary
A founder effect may result from the establishment of a new population by individuals deriving from a much larger population (a true founder event) or an extreme reduction in population size (a bottleneck event). Certain alleles may be found at a higher frequency than previously and can reach even a higher prevalence by genetic drift in the period immediately after the founder event, and later, by inbreeding, in population isolates [1]
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