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Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv

In genetic diseases with variable age of onset, an accurate estimation of the survival function for the mutation carriers and also modifying factors effects estimations are important for the management of asymptomatic gene carriers across life. Among the modifying factors, the gender of the parent t...

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Detalles Bibliográficos
Autores principales: Alarcon, Flora, Planté-Bordeneuve, Violaine, Nuel, Grégory
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414668/
https://www.ncbi.nlm.nih.gov/pubmed/37561731
http://dx.doi.org/10.1371/journal.pone.0288958
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author Alarcon, Flora
Planté-Bordeneuve, Violaine
Nuel, Grégory
author_facet Alarcon, Flora
Planté-Bordeneuve, Violaine
Nuel, Grégory
author_sort Alarcon, Flora
collection PubMed
description In genetic diseases with variable age of onset, an accurate estimation of the survival function for the mutation carriers and also modifying factors effects estimations are important for the management of asymptomatic gene carriers across life. Among the modifying factors, the gender of the parent transmitting the mutation (i.e. the parent-of-origin effect) has been shown to have a significant effect on survival curve estimation on transthyretin familial amyloid polyneuropathy (ATTRv) families. However, as most genotypes are unknown, the parent-of-origin must be calculated through a probability estimated from the pedigree. We propose in this article to extend the method providing mutation carrier survival estimates in order to estimate the parent-of-origin effect. The method is both validated on simulated data and applied to familly samples with ATTRv.
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spelling pubmed-104146682023-08-11 Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv Alarcon, Flora Planté-Bordeneuve, Violaine Nuel, Grégory PLoS One Research Article In genetic diseases with variable age of onset, an accurate estimation of the survival function for the mutation carriers and also modifying factors effects estimations are important for the management of asymptomatic gene carriers across life. Among the modifying factors, the gender of the parent transmitting the mutation (i.e. the parent-of-origin effect) has been shown to have a significant effect on survival curve estimation on transthyretin familial amyloid polyneuropathy (ATTRv) families. However, as most genotypes are unknown, the parent-of-origin must be calculated through a probability estimated from the pedigree. We propose in this article to extend the method providing mutation carrier survival estimates in order to estimate the parent-of-origin effect. The method is both validated on simulated data and applied to familly samples with ATTRv. Public Library of Science 2023-08-10 /pmc/articles/PMC10414668/ /pubmed/37561731 http://dx.doi.org/10.1371/journal.pone.0288958 Text en © 2023 Alarcon, Planté-Bordeneuve https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Alarcon, Flora
Planté-Bordeneuve, Violaine
Nuel, Grégory
Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
title Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
title_full Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
title_fullStr Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
title_full_unstemmed Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
title_short Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
title_sort study of the parent-of-origin effect in monogenic diseases with variable age of onset. application on attrv
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414668/
https://www.ncbi.nlm.nih.gov/pubmed/37561731
http://dx.doi.org/10.1371/journal.pone.0288958
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