RT Journal Article
T1 Long runs of homozygosity are associated with Alzheimer's disease.
A1 Moreno-Grau, Sonia
A1 Fernández, Maria Victoria
A1 de Rojas, Itziar
A1 Garcia-González, Pablo
A1 Hernández, Isabel
A1 Farias, Fabiana
A1 Budde, John P
A1 Quintela, Inés
A1 Madrid, Laura
A1 González-Pérez, Antonio
A1 Montrreal, Laura
A1 Alarcón-Martín, Emilio
A1 Alegret, Montserrat
A1 Maroñas, Olalla
A1 Pineda, Juan Antonio
A1 Macías, Juan
A1 GR@ACE study group, 
A1 DEGESCO consortium, 
A1 Marquié, Marta
A1 Valero, Sergi
A1 Benaque, Alba
A1 Clarimón, Jordi
A1 Bullido, Maria Jesus
A1 García-Ribas, Guillermo
A1 Pástor, Pau
A1 Sánchez-Juan, Pascual
A1 Álvarez, Victoria
A1 Piñol-Ripoll, Gerard
A1 García-Alberca, Jose María
A1 Royo, José Luis
A1 Franco-Macías, Emilio
A1 Mir, Pablo
A1 Calero, Miguel
A1 Medina, Miguel
A1 Rábano, Alberto
A1 Ávila, Jesús
A1 Antúnez, Carmen
A1 Real, Luis Miguel
A1 Orellana, Adelina
A1 Carracedo, Ángel
A1 Sáez, María Eugenia
A1 Tárraga, Lluís
A1 Boada, Mercè
A1 Cruchaga, Carlos
A1 Ruiz, Agustín
A1 Alzheimer’s Disease Neuroimaging Initiative, 
AB 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 cases and 9181 controls.) We detected an increase of homozygosity in AD cases compared to controls [βAVROH (CI 95%) = 0.070 (0.037-0.104); P = 3.91 × 10-5; βFROH (CI95%) = 0.043 (0.009-0.076); P = 0.013]. ROHs increasing the risk of AD (OR > 1) were significantly overrepresented compared to ROHs increasing protection (p  1) were significantly overrepresented compared to ROHs increasing protection (p 
YR 2021
FD 2021-02-24
LK https://hdl.handle.net/10668/25382
UL https://hdl.handle.net/10668/25382
LA en
DS RISalud
RD Apr 12, 2025