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

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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. и др.

в: Biology, Том 11, № 2, 257, 02.2022.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

BibTeX

@article{563c978cfa9d417496b1a00be5b0700b,

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

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.",

keywords = "Agent-based computer modeling, Assortative mating, Genetic fitness, GJB2, Hereditary deafness, Isolated population, Sign language",

author = "Romanov, {Georgii P.} and Smirnova, {Anna A.} and Zamyatin, {Vladimir I.} and Mukhin, {Aleksey M.} and Kazantsev, {Fedor V.} and Pshennikova, {Vera G.} and Teryutin, {Fedor M.} and Solovyev, {Aisen V.} and Fedorova, {Sardana A.} and Posukh, {Olga L.} and Lashin, {Sergey A.} and Barashkov, {Nikolay A.}",

note = "Funding Information: Funding: This work was carried out as part of the State Project of the Ministry of Science and High Education of the Russian Federation (FSRG‐2020‐0016) and the Research Project of the YSC CMP “Study of the genetic structure and burden of hereditary pathology in the populations of the Re‐ public of Sakha (Yakutia)”, as well as with the support of the RFBR grants (No. 18‐05‐60035_Arctika and No. 20‐015‐00328_A) and the Budget Project of the Institute of Cytology and Genetics SB RAS (FWNR‐2022‐0021). Publisher Copyright: {\textcopyright} 2022 by the authors. Li- censee MDPI, Basel, Switzerland.",

year = "2022",

month = feb,

doi = "10.3390/biology11020257",

language = "English",

volume = "11",

journal = "Biology",

issn = "2079-7737",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "2",

}

RIS

TY - JOUR

T1 - Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

AU - Romanov, Georgii P.

AU - Smirnova, Anna A.

AU - Zamyatin, Vladimir I.

AU - Mukhin, Aleksey M.

AU - Kazantsev, Fedor V.

AU - Pshennikova, Vera G.

AU - Teryutin, Fedor M.

AU - Solovyev, Aisen V.

AU - Fedorova, Sardana A.

AU - Posukh, Olga L.

AU - Lashin, Sergey A.

AU - Barashkov, Nikolay A.

N1 - Funding Information: Funding: This work was carried out as part of the State Project of the Ministry of Science and High Education of the Russian Federation (FSRG‐2020‐0016) and the Research Project of the YSC CMP “Study of the genetic structure and burden of hereditary pathology in the populations of the Re‐ public of Sakha (Yakutia)”, as well as with the support of the RFBR grants (No. 18‐05‐60035_Arctika and No. 20‐015‐00328_A) and the Budget Project of the Institute of Cytology and Genetics SB RAS (FWNR‐2022‐0021). Publisher Copyright: © 2022 by the authors. Li- censee MDPI, Basel, Switzerland.

PY - 2022/2

Y1 - 2022/2

N2 - 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.

AB - 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.

KW - Agent-based computer modeling

KW - Assortative mating

KW - Genetic fitness

KW - GJB2

KW - Hereditary deafness

KW - Isolated population

KW - Sign language

UR - http://www.scopus.com/inward/record.url?scp=85124998216&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/f3e3965e-0729-3e0c-87b4-a6c2f889b273/

U2 - 10.3390/biology11020257

DO - 10.3390/biology11020257

M3 - Article

C2 - 35205123

AN - SCOPUS:85124998216

VL - 11

JO - Biology

JF - Biology

SN - 2079-7737

IS - 2

M1 - 257

ER -

ID: 35549803