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Title: Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes.
Authors: Blanco-Gómez, Adrián
Castillo-Lluva, Sonia
Del Mar Sáez-Freire, María
Hontecillas-Prieto, Lourdes
Mao, Jian Hua
Castellanos-Martín, Andrés
Pérez-Losada, Jesus
Keywords: complex diseases;heritability;intermediate phenotype or endophenotype;missing heritability
metadata.dc.subject.mesh: Animals
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Variation
Genetics, Medical
Models, Genetic
Issue Date: 31-May-2016
Abstract: Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as "missing heritability." Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very often, each one of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases.
metadata.dc.identifier.doi: 10.1002/bies.201600084
Appears in Collections:Producción 2020

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