Evidence map›Paper›PMID 26154020›Full record

ArticleNeurobiology of aging2015

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

Raffaele Ferrari, Mario Grassi, Erika Salvi, Barbara Borroni, Fernando Palluzzi, Daniele Pepe, Francesca D'Avila, Alessandro Padovani, Silvana Archetti, Innocenzo Rainero and 29 more

Open access · hybridAbstract read
In one paragraph

Article in Neurobiology of aging, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
3.6field-weighted citation impact, top 7% 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

35 citing papers in PubMed, 69 citations in OpenAlex.

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  14. TheInternational journal of molecular sciences · 2022
    Article
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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

39 authors at 16 institutions in 3 countries.

Raffaele FerrariDepartment of Molecular Neuroscience, Institute of Neurology, UCL, London, UK; Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, TX, USA. Electronic address: r.ferrari@ucl.ac.uk.
Mario GrassiDepartment of Brain and Behavioural Sciences, Medical and Genomic Statistics Unit, University of Pavia, Pavia, Italy.
Erika SalviDepartment of Health Sciences, University of Milan at San Paolo Hospital, Milan, Italy.
Barbara BorroniNeurology Clinic, University of Brescia, Brescia, Italy.
Fernando PalluzziDepartment of Brain and Behavioural Sciences, Medical and Genomic Statistics Unit, University of Pavia, Pavia, Italy.
Daniele PepeDepartment of Brain and Behavioural Sciences, Medical and Genomic Statistics Unit, University of Pavia, Pavia, Italy.
Francesca D'AvilaDepartment of Health Sciences, University of Milan at San Paolo Hospital, Milan, Italy.
Alessandro PadovaniNeurology Clinic, University of Brescia, Brescia, Italy.
Silvana ArchettiNeurology Clinic, University of Brescia, Brescia, Italy.
Innocenzo RaineroNeurology I, Department of Neuroscience, University of Torino and Città della Salute e della Scienza di Torino, Turin, Italy.
Elisa RubinoNeurology I, Department of Neuroscience, University of Torino and Città della Salute e della Scienza di Torino, Turin, Italy.
Lorenzo PinessiNeurology I, Department of Neuroscience, University of Torino and Città della Salute e della Scienza di Torino, Turin, Italy.
Luisa BenussiMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Giuliano BinettiMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Roberta GhidoniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Daniela GalimbertiNeurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.
Elio ScarpiniNeurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.
Maria SerpenteNeurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.
Giacomina RossiDivision of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano Italy.
Giorgio GiacconeDivision of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano Italy.
Fabrizio TagliaviniDivision of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano Italy.
Benedetta NacmiasDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
Irene PiaceriDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
Silvia BagnoliDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
Amalia C BruniNeurogenetic Regional Centre ASPCZ Lamezia Terme, Lamezia TErme, Italy.
Raffaele G MalettaNeurogenetic Regional Centre ASPCZ Lamezia Terme, Lamezia TErme, Italy.
Livia BernardiNeurogenetic Regional Centre ASPCZ Lamezia Terme, Lamezia TErme, Italy.
Alfredo PostiglioneDepartment of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Graziella MilanGeriatric Center Frullone-ASL Napoli 1 Centro, Naples, Italy.
Massimo FranceschiDepartment of Neurology, IRCCS Multimedica, Milan, Italy.
Annibale A PucaDepartment of Medicine and Surgery, University of Salerno, Baronissi, Salerno, Italy; Cardiovascular Research Unit, IRCCS Multimedica, Milan, Italy.
Valeria NovelliDepartment of Molecular Cardiology, IRCCS Fondazione S. Maugeri, Pavia, Italy.
Cristina BarlassinaDepartment of Health Sciences, University of Milan at San Paolo Hospital, Milan, Italy.
Nicola GloriosoHypertension and Related Disease Centre, AOU-University of Sassari, Sassari, Italy.
Paolo ManuntaChair of Nephrology, Nephrology and Dialysis and Hypertension Unit, San Raffaele Scientific Institute, Università Vita Salute San Raffaele, Milano, Italy.
Andrew SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Daniele CusiDepartment of Health Sciences, University of Milan at San Paolo Hospital, Milan, Italy; Institute of Biomedical Technologies, Italian National Research Council, Milan, Italy.
John HardyDepartment of Molecular Neuroscience, Institute of Neurology, UCL, London, UK.
Parastoo MomeniLaboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, TX, USA.
University of Milan · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITCentro San Giovanni di Dio Fatebenefratelli · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Brescia · ITUniversity of Florence · ITUniversity of Pavia · ITTexas Tech University · USFondazione Salvatore Maugeri · ITMultiMedica · ITNational Institutes of Health · USUniversity College London · GBUniversity of Naples Federico II · ITUniversity of Salerno · ITUniversity of Sassari · ITVita-Salute San Raffaele University · IT

Funding

Genetic Analysis Of Non- Alzheimer's disease DementiasZIAAG000951 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2020
$5.6M
Intramural NIH HHSMedical Research Council MC_G1000735Medical Research Council MR/L501542/1Wellcome Trust 089698
6 · The paper itself

Abstract

Frontotemporal dementia (FTD) is the second most prevalent form of early onset dementia after Alzheimer's disease (AD). We performed a case-control association study in an Italian FTD cohort (n = 530) followed by the novel single nucleotide polymorphisms (SNPs)-to-genes approach and functional annotation analysis. We identified 2 novel potential loci for FTD. Suggestive SNPs reached p-values ∼10(-7) and odds ratio > 2.5 (2p16.3) and 1.5 (17q25.3). Suggestive alleles at 17q25.3 identified a disease-associated haplotype causing decreased expression of -cis genes such as RFNG and AATK involved in neuronal genesis and differentiation and axon outgrowth, respectively. We replicated this locus through the SNPs-to-genes approach. Our functional annotation analysis indicated significant enrichment for functions of the brain (neuronal genesis, differentiation, and maturation), the synapse (neurotransmission and synapse plasticity), and elements of the immune system, the latter supporting our recent international FTD-genome-wide association study. This is the largest genome-wide study in Italian FTD to date. Although our results are not conclusive, we set the basis for future replication studies and identification of susceptible molecular mechanisms involved in FTD pathogenesis.

Indexed as

AgedAged, 80 and overAllelesApoptosis Regulatory ProteinsAxonsBrainCase-Control StudiesCell DifferentiationCohort StudiesFemaleFrontotemporal DementiaGenome-Wide Association StudyGlucosyltransferasesHaplotypesHumansIntercellular Signaling Peptides and ProteinsAATK protein, humanApoptosis Regulatory ProteinsGlucosyltransferasesIntercellular Signaling Peptides and ProteinsProtein-Tyrosine KinasesRFNG protein, humanAssociation studyCase-controlFrontotemporal dementiaFunctional annotationGenetic risk factorsPopulation

Identifiers

PMID26154020
PMCPMC4706156
OpenAlexW1865452494

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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 OpenQuestion graph.