E-viri
Recenzirano
Odprti dostop
-
García-González, Pablo; de Rojas, Itziar; Moreno-Grau, Sonia; Montrreal, Laura; Puerta, Raquel; Alarcón-Martín, Emilio; Quintela, Inés; Orellana, Adela; Andrade, Victor; Adami, Pamela V Martino; Heilmann-Heimbach, Stefanie; Gomez-Garre, Pilar; Periñán, María Teresa; Alvarez, Ignacio; Diez-Fairen, Monica; Nuñez Llaves, Raul; Olivé Roig, Claudia; Garcia-Ribas, Guillermo; Menéndez-González, Manuel; Martínez, Carmen; Aguilar, Miquel; Buongiorno, Mariateresa; Franco-Macías, Emilio; Saez, Maria Eugenia; Cano, Amanda; Bullido, Maria J; Real, Luis Miguel; Rodríguez-Rodríguez, Eloy; Royo, Jose Luís; Álvarez, Victoria; Pastor, Pau; Piñol-Ripoll, Gerard; Mir, Pablo; Lara, Miguel Calero; Padilla, Miguel Medina; Sánchez-Juan, Pascual; Carracedo, Angel; Valero, Sergi; Hernandez, Isabel; Tàrraga, Lluis; Ramirez, Alfredo; Boada, Mercé; Ruiz, Agustín
International journal of molecular sciences, 01/2023, Letnik: 24, Številka: 2Journal Article
Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer's disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit ( = 4.22 × 10 ) and was orthogonal with age. We found that a higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment (hazard ratio (HR) = 1.23, = 0.01). Importantly, mloy-PRS had no effect on AD conversion or risk in the female group, suggesting that these associations are caused by the inherent loss of the Y chromosome. Additionally, the blood mLOY phenotype in men was associated with increased cerebrospinal fluid levels of total tau and phosphorylated tau181 in subjects with mild cognitive impairment and dementia. Our results strongly suggest that mLOY is involved in AD pathogenesis.
Avtor
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.