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Exploring first-degree family history in a cohort of Portuguese Alzheimer’s disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors

2024Artigo científico Acesso aberto
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dc.contributor.authorTábuas-Pereira, Miguel
dc.contributor.authorBernardes, Catarina
dc.contributor.authorDurães, João
dc.contributor.authorLima, Marisa
dc.contributor.authorNogueira, Ana Rita
dc.contributor.authorSaraiva, Jorge
dc.contributor.authorTábuas, Teresa
dc.contributor.authorCoelho, Mariana
dc.contributor.authorPaquette, Kimberly
dc.contributor.authorWestra, Kaitlyn
dc.contributor.authorKun-Rodrigues, Célia
dc.contributor.authorAlmeida, Maria Rosário
dc.contributor.authorBaldeiras, Inês
dc.contributor.authorBrás, José
dc.contributor.authorGuerreiro, Rita
dc.contributor.authorSantana, Isabel
dc.date.accessioned2024-10-10T13:44:41Z
dc.date.available2024-10-10T13:44:41Z
dc.date.issued2024
dc.description.abstractAlzheimer’s disease (AD) heritability is estimated to be around 70–80%. Yet, much of it remains to be explained. Studying transmission patterns may help in understanding other factors contributing to the development of AD. In this study, we aimed to search for evidence of autosomal recessive or X- and Y-linked inheritance of risk factors in a large cohort of Portuguese AD patients. We collected family history from patients with AD and cognitively healthy controls over 75 years of age. We compared the proportions of maternal and paternal history in male and female patients and controls (to search for evidence of X-linked and Y-linked inherited risk factors). We compared the risk of developing AD depending on parents’ birthplace (same vs. different), as a proxy of remote consanguinity. We performed linear regressions to study the association of these variables with different endophenotypes. We included 3090 participants, 2183 cognitively healthy controls and 907 patients with AD. Men whose mother had dementia have increased odds of developing AD comparing to women whose mother had dementia. In female patients with a CSF biomarker-supported diagnosis of AD, paternal history of dementia is associated with increased CSF phosphorylated Tau levels. People whose parents are from the same town have higher risk of dementia. In multivariate analysis, this proxy is associated with a lower age of onset and higher CSF phosphorylated tau. Our study gives evidence supporting an increased risk of developing AD associated with an X-linked inheritance pattern and remote consanguinity.pt_PT
dc.description.sponsorshipOpen access funding provided by FCT|FCCN (b-on). Research reported in this publication was supported by the National Institute on Aging of the National Institutes of Health under Award Number R01AG067426. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationWestra, Kaitlyn; Kun-Rodrigues, Célia; Almeida, Maria Rosário; Baldeiras, Inês; Brás, José; Guerreiro, Rita; Santana, Isabel (2024). Exploring first-degree family history in a cohort of Portuguese Alzheimer’s disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors. Journal of Neurology. ISSN 0340-5354. 271:10, p. 6983–6990pt_PT
dc.identifier.doi10.1007/s00415-024-12673-xpt_PT
dc.identifier.issn0340-5354
dc.identifier.urihttp://hdl.handle.net/10198/30404
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFamilypt_PT
dc.subjectAlzheimerpt_PT
dc.subjectX-chromosomept_PT
dc.subjectHomozygositypt_PT
dc.subjectConsanguinitypt_PT
dc.titleExploring first-degree family history in a cohort of Portuguese Alzheimer’s disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factorspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage6990pt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPage6983pt_PT
oaire.citation.titleJournal of Neurologypt_PT
oaire.citation.volume271pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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