Evidence map›Paper›PMID 34921659›Full record

ArticleGeroScience2022

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population.

Maria Giulia Bacalini, Flavia Palombo, Paolo Garagnani, Cristina Giuliani, Claudio Fiorini, Leonardo Caporali, Michelangelo Stanzani Maserati, Sabina Capellari, Martina Romagnoli, Sara De Fanti and 17 more

Open access · hybridAbstract read
In one paragraph

Article in GeroScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.3field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 23 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 8 institutions in 3 countries.

Maria Giulia BacaliniIRCCS Istituto delle Scienze Neurologiche di Bologna, Laboratorio Brain Aging, Bologna, Italy.
Flavia PalomboIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Paolo GaragnaniDepartment of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Cristina GiulianiAlma Mater Research Institute on Global Challenges and Climate Change (Alma Climate), University of Bologna, Bologna, Italy.
Claudio FioriniIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Leonardo CaporaliIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Michelangelo Stanzani MaseratiIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Sabina CapellariIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Martina RomagnoliIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Sara De FantiAlma Mater Research Institute on Global Challenges and Climate Change (Alma Climate), University of Bologna, Bologna, Italy.
Luisa BenussiIRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Giuliano BinettiIRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Roberta GhidoniIRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Daniela GalimbertiFondazione IRCCS Ca' Granda, Ospedale Policlinico, Milan, Italy.
Elio ScarpiniFondazione IRCCS Ca' Granda, Ospedale Policlinico, Milan, Italy.
Marina ArcaroFondazione IRCCS Ca' Granda, Ospedale Policlinico, Milan, Italy.
Enrica BonanniNeurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Gabriele SicilianoNeurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Michelangelo MaestriNeurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Biancamaria GuarnieriCenter of Sleep Medicine, Villa Serena Hospital and Villaserena Foundation for the Research, Città S. Angelo, Pescara, Italy.
Italian Multicentric Group on clock genes, actigraphy in AD
Morena MartucciDepartment of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Daniela MontiDepartment of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
Valerio CarelliIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Claudio FranceschiDepartment of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Chiara La MorgiaIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Aurelia SantoroDepartment of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy. aurelia.santoro@unibo.it.
Istituto delle Scienze Neurologiche di Bologna · ITUniversity of Bologna · ITUniversity of Pisa · ITCentro San Giovanni di Dio Fatebenefratelli · ITUniversity of Florence · ITUniversity of Milan · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITKarolinska University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Alzheimer DiseaseCircadian ClocksLongevityPeriod Circadian ProteinsAged, 80 and overAgingCircadian RhythmHumansItalyPER1 protein, humanPeriod Circadian ProteinsAgingAlzheimer’s diseaseCentenariansCircadian rhythmsCLOCK genesPolymorphism

Identifiers

PMID34921659
PMCPMC9135916
OpenAlexW4200467160

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.