HAL : inserm-00359205, version 1

PubMed : 18618769

DOI : 10.1002/gepi.20354

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Genetic Epidemiology 33, 1 (2009) 38-44

A nonparametric method for penetrance function estimation.

Flora Alarcon (  Auteur correspondant ) 1, Catherine Bonaïti-Pellié 1, Hugo Harari-Kermadec 2, 3

(01/2009)

In diseases caused by a deleterious gene mutation, knowledge of age-specific cumulative risks is necessary for medical management of mutation carriers. When pedigrees are ascertained through at least one affected individual, ascertainment bias can be corrected by using a parametric method such as the Proband's phenotype Exclusion Likelihood, or PEL, that uses a survival analysis approach based on the Weibull model. This paper proposes a nonparametric method for penetrance function estimation that corrects for ascertainment on at least one affected: the Index Discarding EuclideAn Likelihood or IDEAL. IDEAL is compared with PEL, using family samples simulated from a Weibull distribution and under alternative models. We show that, under Weibull assumption and asymptotic conditions, IDEAL and PEL both provide unbiased risk estimates. However, when the true risk function deviates from a Weibull distribution, we show that the PEL might provide biased estimates while IDEAL remains unbiased.

1 :	Génétique épidémiologique et structures des populations humaines
	INSERM : U535 – IFR69 – Université Paris XI - Paris Sud
2 :	CEntre de REcherches en MAthématiques de la DEcision (CEREMADE)
	CNRS : UMR7534 – Université Paris IX - Paris Dauphine
3 :	Centre de Recherche en Économie et Statistique (CREST)
	INSEE – École Nationale de la Statistique et de l'Administration Économique

domaine

:

Sciences du Vivant/Génétique

mots-clés auteur : Risk estimation – ascertainment bias – non parametric method

inserm-00359205, version 1

http://www.hal.inserm.fr/inserm-00359205

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Contributeur : Catherine Bonaïti-Pellié <>

Soumis le : Vendredi 6 Mai 2011, 10:55:20

Dernière modification le : Vendredi 6 Mai 2011, 10:55:20