2020/12/09 by Luis A. La Rocca, Julia Frank, La Rocca, Luis A. +11
Biochemistry, Genetics and Molecular Biology · #Evolution and Genetic Dynamics #FOS: Biological sciences #Genetic Associations and Epidemiology #Genetic and Kidney Cyst Diseases #Populations and Evolution (q-bio.PE)
paper · pdf · doi:10.48550/arxiv.2012.04968
openalex publication_date 2020/12/09 · openalex created_date 2020/12/21 · openalex updated_date 2026/07/28
Despite increasing data from population-wide sequencing studies, the risk for recessive disorders in consanguineous partnerships is still heavily debated. An important aspect that has not sufficiently been investigated theoretically, is the influence of inbreeding on mutation load and incidence rates when the population sizes change. We therefore developed a model to study these dynamics for a wide range of growth and mating conditions. In the phase of population expansion and shortly afterwards, our simulations show that there is a drop of diseased individuals at the expense of an increasing mutation load for random mating, while both parameters remain almost constant in highly consanguineous partnerships. This explains the empirical observation in present times that a high degree of consanguinity is associated with an increased risk of autosomal recessive disorders. However, it also states that the higher frequency of severe recessive disorders with developmental delay in inbred populations is a transient phenomenon before a mutation-selection balance is reached again.