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

Flora Alarcon; Violaine Planté-Bordeneuve; Gregory Nuel

Pré-Publication, Document De Travail Année : 2023

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

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Flora Alarcon

Fonction : Auteur
PersonId : 857704

Mathématiques Appliquées Paris 5

Violaine Planté-Bordeneuve

Fonction : Auteur

Université Paris-Est Créteil Val-de-Marne - Faculté de médecine

Gregory Nuel

Fonction : Auteur

Laboratoire de Probabilités, Statistique et Modélisation

Résumé

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.

Mots clés

Semi-parametric estimation Survival Curve Parent of origin effect Proportionnal hazard model Familial amyloid polyneuropathy

Domaines

Statistiques [math.ST] Génétique humaine Neurosciences [q-bio.NC]

Fichier principal

NAH-POO-V9.pdf (358.8 Ko)

Cox-POO-M-O (1).pdf (14.66 Ko)

Cox-POO-M-O.pdf (14.66 Ko)

Cox-POO-M-R (1).pdf (14.65 Ko)

Cox-POO-M-R.pdf (14.65 Ko)

Cox-POO-M-U (1).pdf (14.73 Ko)

Cox-POO-M-U.pdf (14.73 Ko)

Cox-POO-appli-french (1).pdf (11.6 Ko)

Cox-POO-appli-french.pdf (11.6 Ko)

Cox-POO-appli-port (1).pdf (11.56 Ko)

Cox-POO-appli-port.pdf (11.56 Ko)

boxplot-N100-Beta06-iteration-EM (1).pdf (4.72 Ko)

boxplot-N100-Beta06-iteration-EM.pdf (4.72 Ko)

pedigree (1).pdf (51.68 Ko)

pedigree (1).png (55.74 Ko)

pedigree.pdf (51.68 Ko)

pedigree.png (55.74 Ko)

pedigree2 (1).pdf (51.71 Ko)

pedigree2.pdf (51.71 Ko)

violinplot-N100-Beta06 (1).pdf (25.84 Ko)

violinplot-N100-Beta06.pdf (25.84 Ko)

violinplots (1).pdf (63.67 Ko)

violinplots-cases-iter (1).pdf (55.15 Ko)

violinplots-cases-iter.pdf (55.15 Ko)

violinplots-iter (1).pdf (32.37 Ko)

violinplots-iter.pdf (32.37 Ko)

violinplots.pdf (63.67 Ko)

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https://hal.science/hal-03970837

Soumis le : jeudi 2 février 2023-22:59:11

Dernière modification le : mercredi 30 octobre 2024-13:33:54

Dates et versions

hal-03970837 , version 1 (02-02-2023)

Identifiants

HAL Id : hal-03970837 , version 1
ARXIV : 2107.09365

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Flora Alarcon, Violaine Planté-Bordeneuve, Gregory Nuel. Study of the Parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv. 2023. ⟨hal-03970837⟩

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

Résumé

Mots clés

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