Moreno-Grau, SoniaFernández, Maria Victoriade Rojas, ItziarGarcia-González, PabloHernández, IsabelFarias, FabianaBudde, John PQuintela, InésMadrid, LauraGonzález-Pérez, AntonioMontrreal, LauraAlarcón-Martín, EmilioAlegret, MontserratMaroñas, OlallaPineda, Juan AntonioMacías, JuanGR@ACE study groupDEGESCO consortiumMarquié, MartaValero, SergiBenaque, AlbaClarimón, JordiBullido, Maria JesusGarcía-Ribas, GuillermoPástor, PauSánchez-Juan, PascualÁlvarez, VictoriaPiñol-Ripoll, GerardGarcía-Alberca, Jose MaríaRoyo, José LuisFranco-Macías, EmilioMir, PabloCalero, MiguelMedina, MiguelRábano, AlbertoÁvila, JesúsAntúnez, CarmenReal, Luis MiguelOrellana, AdelinaCarracedo, ÁngelSáez, María EugeniaTárraga, LluísBoada, MercèCruchaga, CarlosRuiz, AgustínAlzheimer’s Disease Neuroimaging Initiative2025-01-072025-01-072021-02-24https://hdl.handle.net/10668/25382Long 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 enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Alzheimer DiseaseHomozygoteHumansPolymorphism, Single Nucleotideresearch article33627629open access10.1038/s41398-020-01145-12158-3188PMC7904832https://www.nature.com/articles/s41398-020-01145-1.pdfhttps://pmc.ncbi.nlm.nih.gov/articles/PMC7904832/pdf