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Association ofrs3027178polymorphism in thecircadian clock genePER1 withsusceptibility toAlzheimer’s diseaseand longevity in anItalian population Maria Giulia BacaliniFlavia PalomboPaolo Garagnani2021 год

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population
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Аннотация: Many physiological processes in the human body follow a 24-h circadian rhythm controlled by the circadian clock system. Light, sensed by retina, is the predominant "zeitgeber" able to synchronize the circadian rhythms to the light-dark cycles. Circadian rhythm dysfunction and sleep disorders have been associated with aging and neurodegenerative diseases including mild cognitive impairment (MCI) and Alzheimer's disease (AD). In the present study, we aimed at investigating the genetic variability of clock genes in AD patients compared to healthy controls from Italy. We also included a group of Italian centenarians, considered as super-controls in association studies given their extreme phenotype of successful aging. We analyzed the exon sequences of eighty-four genes related to circadian rhythms, and the most significant variants identified in this first discovery phase were further assessed in a larger independent cohort of AD patients by matrix assisted laser desorption/ionization-time of flight mass spectrometry. The results identified a significant association between the rs3027178 polymorphism in the PER1 circadian gene with AD, the G allele being protective for AD. Interestingly, rs3027178 showed similar genotypic frequencies among AD patients and centenarians. These results collectively underline the relevance of circadian dysfunction in the predisposition to AD and contribute to the discussion on the role of the relationship between the genetics of age-related diseases and of longevity.
Год издания: 2021
Авторы: Maria Giulia Bacalini, Flavia Palombo, Paolo Garagnani, Cristina Giuliani, Claudio Fiorini, Leonardo Caporali, Michelangelo Stanzani Maserati, Sabina Capellari, Martina Romagnoli, Sara De Fanti, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Daniela Galimberti, Elio Scarpini, Marina Arcaro, Enrica Bonanni, Gabriele Siciliano, Michelangelo Maestri, Biancamaria Guarnieri, Federico Cucchiara, Alessandro Schirru, Annalisa Lo Gerfo, Gemma Lombardi, Dario Arnaldi, Pietro Mattioli, Flavio Nobili, Gianluigi Cerroni, A. Bartoli, Raffaele Manni, Elena Sinforiani, Michele Terzaghi, Maria Arena, Rosalia Silvestri, Maria Perri, Ferdinando Franzoni, Gloria Tognoni, Michelangelo Mancuso, Sandro Sorbi, Ubaldo Bonuccelli, Ugo Faraguna, Morena Martucci, Daniela Monti, Valério Carelli, Claudio Franceschi, Chiara La Morgia, Aurelia Santoro
Издательство: Springer International Publishing
Источник: GeroScience
Ключевые слова: Circadian rhythm and melatonin, Genetics, Aging, and Longevity in Model Organisms, Psychological and Temporal Perspectives Research
Другие ссылки: GeroScience (PDF)
GeroScience (HTML)
PubMed Central (HTML)
PubMed (HTML)