RT Journal Article
T1 Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes.
A1 Blanco-Gómez, Adrián
A1 Castillo-Lluva, Sonia
A1 Del Mar Sáez-Freire, María
A1 Hontecillas-Prieto, Lourdes
A1 Mao, Jian Hua
A1 Castellanos-Martín, Andrés
A1 Pérez-Losada, Jesus
K1 complex diseases
K1 heritability
K1 intermediate phenotype or endophenotype
K1 missing heritability
AB 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.
YR 2016
FD 2016-05-31
LK http://hdl.handle.net/10668/10137
UL http://hdl.handle.net/10668/10137
LA en
DS RISalud
RD Apr 6, 2025