Long runs of homozygosity are associated with Alzheimer's disease.

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dc.contributor.authorMoreno-Grau, Sonia
dc.contributor.authorFernández, Maria Victoria
dc.contributor.authorde Rojas, Itziar
dc.contributor.authorGarcia-González, Pablo
dc.contributor.authorHernández, Isabel
dc.contributor.authorFarias, Fabiana
dc.contributor.authorBudde, John P
dc.contributor.authorQuintela, Inés
dc.contributor.authorMadrid, Laura
dc.contributor.authorGonzález-Pérez, Antonio
dc.contributor.authorMontrreal, Laura
dc.contributor.authorAlarcón-Martín, Emilio
dc.contributor.authorAlegret, Montserrat
dc.contributor.authorMaroñas, Olalla
dc.contributor.authorPineda, Juan Antonio
dc.contributor.authorMacías, Juan
dc.contributor.authorGR@ACE study group
dc.contributor.authorDEGESCO consortium
dc.contributor.authorMarquié, Marta
dc.contributor.authorValero, Sergi
dc.contributor.authorBenaque, Alba
dc.contributor.authorClarimón, Jordi
dc.contributor.authorBullido, Maria Jesus
dc.contributor.authorGarcía-Ribas, Guillermo
dc.contributor.authorPástor, Pau
dc.contributor.authorSánchez-Juan, Pascual
dc.contributor.authorÁlvarez, Victoria
dc.contributor.authorPiñol-Ripoll, Gerard
dc.contributor.authorGarcía-Alberca, Jose María
dc.contributor.authorRoyo, José Luis
dc.contributor.authorFranco-Macías, Emilio
dc.contributor.authorMir, Pablo
dc.contributor.authorCalero, Miguel
dc.contributor.authorMedina, Miguel
dc.contributor.authorRábano, Alberto
dc.contributor.authorÁvila, Jesús
dc.contributor.authorAntúnez, Carmen
dc.contributor.authorReal, Luis Miguel
dc.contributor.authorOrellana, Adelina
dc.contributor.authorCarracedo, Ángel
dc.contributor.authorSáez, María Eugenia
dc.contributor.authorTárraga, Lluís
dc.contributor.authorBoada, Mercè
dc.contributor.authorCruchaga, Carlos
dc.contributor.authorRuiz, Agustín
dc.contributor.authorAlzheimer’s Disease Neuroimaging Initiative
dc.date.accessioned2025-01-07T13:16:12Z
dc.date.available2025-01-07T13:16:12Z
dc.date.issued2021-02-24
dc.description.abstractLong 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 
dc.identifier.doi10.1038/s41398-020-01145-1
dc.identifier.essn2158-3188
dc.identifier.pmcPMC7904832
dc.identifier.pmid33627629
dc.identifier.pubmedURLhttps://pmc.ncbi.nlm.nih.gov/articles/PMC7904832/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41398-020-01145-1.pdf
dc.identifier.urihttps://hdl.handle.net/10668/25382
dc.issue.number1
dc.journal.titleTranslational psychiatry
dc.journal.titleabbreviationTransl Psychiatry
dc.language.isoen
dc.organizationSAS - Hospital Universitario Reina Sofía
dc.page.number142
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, N.I.H., Extramural
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshAlzheimer Disease
dc.subject.meshHomozygote
dc.subject.meshHumans
dc.subject.meshPolymorphism, Single Nucleotide
dc.titleLong runs of homozygosity are associated with Alzheimer's disease.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number11

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