Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity.

Autor: La Rocca LA; Institute for Applied Mathematics, University of Bonn, Bonn, Germany., Frank J; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, Univeristy of Oslo, Oslo, Norway., Pantel JT; Department of Digitalization and General Practice, University Hospital RWTH Aachen, Aachen, Germany., Gerischer K; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Bovier A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Krawitz PM; Institute for Applied Mathematics, University of Bonn, Bonn, Germany.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63452. Date of Electronic Publication: 2023 Nov 03.
DOI: 10.1002/ajmg.a.63452
Abstrakt: Population medical genetics aims at translating clinically relevant findings from recent studies of large cohorts into healthcare for individuals. Genetic counseling concerning reproductive risks and options is still mainly based on family history, and consanguinity is viewed to increase the risk for recessive diseases regardless of the demographics. However, in an increasingly multi-ethnic society with diverse approaches to partner selection, healthcare professionals should also sharpen their intuition for the influence of different mating schemes in non-equilibrium dynamics. We, therefore, revisited the so-called out-of-Africa model and studied in forward simulations with discrete and not overlapping generations the effect of inbreeding on the average number of recessive lethals in the genome. We were able to reproduce in both frameworks the drop in the incidence of recessive disorders, which is a transient phenomenon during and after the growth phase of a population, and therefore showed their equivalence. With the simulation frameworks, we also provide the means to study and visualize the effect of different kin sizes and mating schemes on these parameters for educational purposes.
(© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: