Article
Long runs of homozygosity are associated with Alzheimer's disease.
Translational psychiatry - 24 Feb 2021
Moreno-Grau Sonia, Fernández Maria Victoria, de Rojas Itziar, Garcia-González Pablo, Hernández Isabel, Farias Fabiana, Budde John P, Quintela Inés, Madrid Laura, González-Pérez Antonio, Montrreal Laura, Alarcón-Martín Emilio, Alegret Montserrat, Maroñas Olalla, Pineda Juan Antonio, Macías Juan, Marquié Marta, Valero Sergi, Benaque Alba, Clarimón Jordi, Bullido Maria Jesus, García-Ribas Guillermo, Pástor Pau, Sánchez-Juan Pascual, Álvarez Victoria, Piñol-Ripoll Gerard, García-Alberca Jose María, Royo José Luis, Franco-Macías Emilio, Mir Pablo, Calero Miguel, Medina Miguel, Rábano Alberto, Ávila Jesús, Antúnez Carmen, Real Luis Miguel, Orellana Adelina, Carracedo Ángel, Sáez María Eugenia, Tárraga Lluís, Boada Mercè, Cruchaga Carlos, Ruiz Agustín
Abstract excerpt
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD...
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