Percorrer por autor "Bernardes, Catarina"
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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 factorsPublication . Tábuas-Pereira, Miguel; Bernardes, Catarina; Durães, João; Lima, Marisa; Nogueira, Ana Rita; Saraiva, Jorge; Tábuas, Teresa; Coelho, Mariana; Paquette, Kimberly; Westra, Kaitlyn; Kun-Rodrigues, Célia; Almeida, Maria Rosário; Baldeiras, Inês; Brás, José; Guerreiro, Rita; Santana, IsabelAlzheimer’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.
- Maternal longevity is associated with reduced risk but an earlier onset of alzheimer’s disease in offspringPublication . Tábuas-Pereira, Miguel; Mano, Francisco; Bernardes, Catarina; Durães, João; Lima, Marisa; DenHaan, Kaitlyn; Paquette, Kimberly; Kun-Rodrigues, Célia; Carmona, Susana; Tábuas, Teresa; Faustino, Pedro; Coelho, Mariana Ruth; Silva-Spínola, Anuschka; Duro, Diana; Almeida, Maria Rosário; Malva, João; Baldeiras, Inês; Brás, José; Guerreiro, Rita; Santana, IsabelWhile human longevity has increased significantly over the last 2 centuries, the time spent in good physical and cognitive health has not risen proportionately. The incidence of Alzheimer’s disease (AD) increases with age, but parental longevity is often associated with better offspring health and lower AD risk. This study aimed to investigate the relationship between parental longevity and AD. We included patients with AD and cognitively healthy subjects (over 75 years), collecting family history data, namely maternal and paternal age at death. We performed a logistic regression to evaluate the association of parental longevity and AD risk and linear regression models for the association with age of onset and CSF biomarkers, adjusting for confounders. We analyzed 3069 participants from a Portuguese cohort, including 893 AD patients and 2176 cognitively healthy controls. Maternal longevity was inversely associated with AD risk (OR: 0.989, 95%CI = [0.982, 0.997], P = 0.005). In AD patients, higher maternal age of death was associated with an earlier disease onset (β = −0.081, 95%CI = [−0.148, −0.013], P = 0.019). No associations were found between parental longevity and CSF biomarkers. Maternal longevity appears protective against AD risk but is linked to an earlier onset in patients. This may indicate that protective factors for AD could become detrimental once AD is triggered. These findings highlight the complex interplay of genetic, environmental, and potentially epigenetic influences on AD.