Evidence map›Paper›PMID 21391235›Full record

SynthesisAnnals of neurology2011

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.

Alexis Elbaz, Owen A Ross, John P A Ioannidis, Alexandra I Soto-Ortolaza, Frédéric Moisan, Jan Aasly, Grazia Annesi, Maria Bozi, Laura Brighina, Marie-Christine Chartier-Harlin and 32 more

Open access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in Annals of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 4 pooled it
6.2field-weighted citation impact, top 3% 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

52 citing papers in PubMed, 4 syntheses or guidelines pooled it, 91 citations in OpenAlex.

  1. Pooled it
  2. Association between alpha-synuclein (SNCA) rs11931074 variability and susceptibility to Parkinson's disease: an updated meta-analysis of 41,811 patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Review
  6. medRxiv : the preprint server for health sciences · 2023
    Article
  7. Review
  8. Review
  9. Tau and MAPT genetics in tauopathies and synucleinopathies.Parkinsonism & related disorders · 2021
    Review
  10. Review
  11. iPS Cell-Based Model forFrontiers in cell and developmental biology · 2021
    Article
  12. Article
  13. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2019
    Article
  14. Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy.Laboratory investigation; a journal of technical methods and pathology · 2019
    Review
  15. A Comprehensive Analysis of the Association BetweenFrontiers in molecular neuroscience · 2018
    Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. Article
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

42 authors at 20 institutions in 11 countries.

Alexis ElbazINSERM, U708, Neuroepidemiology, F-75013, Paris, France. alexis.elbaz@upmc.fr
Owen A Ross
John P A Ioannidis
Alexandra I Soto-Ortolaza
Frédéric Moisan
Jan Aasly
Grazia Annesi
Maria Bozi
Laura Brighina
Marie-Christine Chartier-Harlin
Alain Destée
Carlo Ferrarese
Alessandro Ferraris
J Mark Gibson
Suzana Gispert
Georgios M Hadjigeorgiou
Barbara Jasinska-Myga
Christine Klein
Rejko Krüger
Jean-Charles Lambert
Katja Lohmann
Simone van de Loo
Marie-Anne Loriot
Timothy Lynch
George D Mellick
Eugénie Mutez
Christer Nilsson
Grzegorz Opala
Andreas Puschmann
Aldo Quattrone
Manu Sharma
Peter A Silburn
Leonidas Stefanis
Ryan J Uitti
Enza Maria Valente
Carles Vilariño-Güell
Karin Wirdefeldt
Zbigniew K Wszolek
Georgia Xiromerisiou
Demetrius M Maraganore
Matthew J Farrer
Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Mayo Clinic in Florida · USInserm · FRCasa Sollievo della Sofferenza · ITGoethe University Frankfurt · DELund University · SEMedical University of Silesia · PLNational and Kapodistrian University of Athens · GRUniversity of Lübeck · DEUniversity of Milano-Bicocca · ITCenter for Research and Technology Thessaly · GRGerman Center for Neurodegenerative Diseases · DEGriffith University · AUInstitut Pasteur de Lille · FRKarolinska Institutet · SELille’s Cardiology Hospital · FRMagna Graecia University · ITMater Misericordiae University Hospital · IENational Research Council · ITNorthShore University HealthSystem · USRoyal Brisbane and Women's Hospital · AU

Funding

TUFTS CLINICAL AND TRANSLATION SCIENCE INSTITUTE (UL1): BPCAUL1RR025752 · NCRR · TUFTS UNIVERSITY BOSTON · PI SELKER, HARRY P. · 2008 to 2011
$17.6M
Supplement-ES10751 (Molecular Epidemiology of PD)R01ES010751 · NIEHS · MAYO CLINIC ROCHESTER · PI MARAGANORE, DEMETRIUS MICHAEL · 2000 to 2010
$9.2M
Genetics and Molecular Biology of ParkinsonismP50NS040256 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2004 to 2009
$8.9M
MORRIS K. UDALL PARKINSONS DISEASE RESEARCH CENTER OF EXP01NS040256 · NINDS · MAYO CLINIC COLL OF MED, JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 1999 to 2003
$5.2M
PD iPS Cell Line Research ConsortiumRC2NS070276 · NINDS · MCLEAN HOSPITAL · PI ISACSON, OLE · 2009 to 2010
$3.8M
Biomarkers for Preclinical Parkinson's diseaseR01NS057567 · NINDS · UNIVERSITY OF WASHINGTON · PI ZHANG, JING · 2008 to 2012
$3.1M
Environmental Factors for Parkinson's in Swedish TwinsR01ES010758 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PEDERSEN, NANCY L · 2001 to 2004
$1.4M
NCRR NIH HHS UL1 RR025752NIEHS NIH HHS 2R01ES10751NIEHS NIH HHS ES10758NIEHS NIH HHS R01 ES010751NIEHS NIH HHS R01 ES010758NINDS NIH HHS NS070276-01NINDS NIH HHS P01 NS040256NINDS NIH HHS P50 NS040256NINDS NIH HHS P50NS40256NINDS NIH HHS R01 NS057567NINDS NIH HHS RC2 NS070276
6 · The paper itself

Abstract

objectiveWe studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium.

methodsParticipants of Caucasian ancestry were genotyped for a total of 4 SNCA (rs2583988, rs181489, rs356219, rs11931074) and 2 MAPT (rs1052553, rs242557) single nucleotide polymorphism (SNPs). Individual and joint effects of SNCA and MAPT SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied on both a multiplicative and an additive scale, and using a case-control and case-only approach.

resultsFifteen GEO-PD sites contributed a total of 5,302 cases and 4,161 controls. All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For SNCA, the strongest associations were observed for SNPs located at the 3' end of the gene. There was no evidence of statistical interaction between any of the 4 SNCA SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale.

interpretationThis study confirms the association between PD and both SNCA SNPs and the H1 MAPT haplotype. It shows, based on a variety of approaches, that the joint action of variants in these 2 loci is consistent with independent effects of the genes without additional interacting effects.

Indexed as

Genetic Predisposition to DiseaseAdultAgedAged, 80 and overAge of Onsetalpha-SynucleinCase-Control StudiesFemaleHumansLogistic ModelsMaleMiddle AgedOdds RatioParkinson DiseasePolymorphism, Single NucleotideRetrospective Studiesalpha-SynucleinMAPT protein, humanSNCA protein, humantau Proteins

Identifiers

PMID21391235
PMCPMC3082599
OpenAlexW2033274736

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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 OpenQuestion graph.