Cargando…

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

SIMPLE SUMMARY: In this study, we developed a simple simulation model to illustrate the effects of different mating patterns on the spread of autosomal recessive deafness 1A (DFNB1A) in an isolated human population with regard to the intensity of selection pressure. The modeling results have reveale...

Descripción completa

Detalles Bibliográficos
Autores principales: Romanov, Georgii P., Smirnova, Anna A., Zamyatin, Vladimir I., Mukhin, Aleksey M., Kazantsev, Fedor V., Pshennikova, Vera G., Teryutin, Fedor M., Solovyev, Aisen V., Fedorova, Sardana A., Posukh, Olga L., Lashin, Sergey A., Barashkov, Nikolay A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869167/
https://www.ncbi.nlm.nih.gov/pubmed/35205123
http://dx.doi.org/10.3390/biology11020257
_version_ 1784656432048635904
author Romanov, Georgii P.
Smirnova, Anna A.
Zamyatin, Vladimir I.
Mukhin, Aleksey M.
Kazantsev, Fedor V.
Pshennikova, Vera G.
Teryutin, Fedor M.
Solovyev, Aisen V.
Fedorova, Sardana A.
Posukh, Olga L.
Lashin, Sergey A.
Barashkov, Nikolay A.
author_facet Romanov, Georgii P.
Smirnova, Anna A.
Zamyatin, Vladimir I.
Mukhin, Aleksey M.
Kazantsev, Fedor V.
Pshennikova, Vera G.
Teryutin, Fedor M.
Solovyev, Aisen V.
Fedorova, Sardana A.
Posukh, Olga L.
Lashin, Sergey A.
Barashkov, Nikolay A.
author_sort Romanov, Georgii P.
collection PubMed
description SIMPLE SUMMARY: In this study, we developed a simple simulation model to illustrate the effects of different mating patterns on the spread of autosomal recessive deafness 1A (DFNB1A) in an isolated human population with regard to the intensity of selection pressure. The modeling results have revealed that the prevalence of DFNB1A in an isolated population can be dramatically increased under frequent assortative marriages in a relatively short time period under the pressure of “relaxed” selection. However, under current conditions, the proportion of recessive homozygotes quickly reaches a short plateau and then continuously decreases. Moreover, in the long term, the studied effect can be leveled by growing social equality for deaf people, as evidenced by the results of neutral selection modeling. ABSTRACT: An increase in the prevalence of autosomal recessive deafness 1A (DFNB1A) in populations of European descent was shown to be promoted by assortative marriages among deaf people. Assortative marriages became possible with the widespread introduction of sign language, resulting in increased genetic fitness of deaf individuals and, thereby, relaxing selection against deafness. However, the effect of this phenomenon was not previously studied in populations with different genetic structures. We developed an agent-based computer model for the analysis of the spread of DFNB1A. Using this model, we tested the impact of different intensities of selection pressure against deafness in an isolated human population over 400 years. Modeling of the “purifying” selection pressure on deafness (“No deaf mating” scenario) resulted in a decrease in the proportion of deaf individuals and the pathogenic allele frequency. Modeling of the “relaxed” selection (“Assortative mating” scenario) resulted in an increase in the proportion of deaf individuals in the first four generations, which then quickly plateaued with a subsequent decline and a decrease in the pathogenic allele frequency. The results of neutral selection pressure modeling (“Random mating” scenario) showed no significant changes in the proportion of deaf individuals or the pathogenic allele frequency after 400 years.
format Online
Article
Text
id pubmed-8869167
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-88691672022-02-25 Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population Romanov, Georgii P. Smirnova, Anna A. Zamyatin, Vladimir I. Mukhin, Aleksey M. Kazantsev, Fedor V. Pshennikova, Vera G. Teryutin, Fedor M. Solovyev, Aisen V. Fedorova, Sardana A. Posukh, Olga L. Lashin, Sergey A. Barashkov, Nikolay A. Biology (Basel) Article SIMPLE SUMMARY: In this study, we developed a simple simulation model to illustrate the effects of different mating patterns on the spread of autosomal recessive deafness 1A (DFNB1A) in an isolated human population with regard to the intensity of selection pressure. The modeling results have revealed that the prevalence of DFNB1A in an isolated population can be dramatically increased under frequent assortative marriages in a relatively short time period under the pressure of “relaxed” selection. However, under current conditions, the proportion of recessive homozygotes quickly reaches a short plateau and then continuously decreases. Moreover, in the long term, the studied effect can be leveled by growing social equality for deaf people, as evidenced by the results of neutral selection modeling. ABSTRACT: An increase in the prevalence of autosomal recessive deafness 1A (DFNB1A) in populations of European descent was shown to be promoted by assortative marriages among deaf people. Assortative marriages became possible with the widespread introduction of sign language, resulting in increased genetic fitness of deaf individuals and, thereby, relaxing selection against deafness. However, the effect of this phenomenon was not previously studied in populations with different genetic structures. We developed an agent-based computer model for the analysis of the spread of DFNB1A. Using this model, we tested the impact of different intensities of selection pressure against deafness in an isolated human population over 400 years. Modeling of the “purifying” selection pressure on deafness (“No deaf mating” scenario) resulted in a decrease in the proportion of deaf individuals and the pathogenic allele frequency. Modeling of the “relaxed” selection (“Assortative mating” scenario) resulted in an increase in the proportion of deaf individuals in the first four generations, which then quickly plateaued with a subsequent decline and a decrease in the pathogenic allele frequency. The results of neutral selection pressure modeling (“Random mating” scenario) showed no significant changes in the proportion of deaf individuals or the pathogenic allele frequency after 400 years. MDPI 2022-02-07 /pmc/articles/PMC8869167/ /pubmed/35205123 http://dx.doi.org/10.3390/biology11020257 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Romanov, Georgii P.
Smirnova, Anna A.
Zamyatin, Vladimir I.
Mukhin, Aleksey M.
Kazantsev, Fedor V.
Pshennikova, Vera G.
Teryutin, Fedor M.
Solovyev, Aisen V.
Fedorova, Sardana A.
Posukh, Olga L.
Lashin, Sergey A.
Barashkov, Nikolay A.
Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
title Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
title_full Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
title_fullStr Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
title_full_unstemmed Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
title_short Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
title_sort agent-based modeling of autosomal recessive deafness 1a (dfnb1a) prevalence with regard to intensity of selection pressure in isolated human population
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869167/
https://www.ncbi.nlm.nih.gov/pubmed/35205123
http://dx.doi.org/10.3390/biology11020257
work_keys_str_mv AT romanovgeorgiip agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT smirnovaannaa agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT zamyatinvladimiri agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT mukhinalekseym agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT kazantsevfedorv agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT pshennikovaverag agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT teryutinfedorm agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT solovyevaisenv agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT fedorovasardanaa agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT posukholgal agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT lashinsergeya agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation
AT barashkovnikolaya agentbasedmodelingofautosomalrecessivedeafness1adfnb1aprevalencewithregardtointensityofselectionpressureinisolatedhumanpopulation