Evidence map›Paper›PMID 21412835›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2011

Common variants in PARK loci and related genes and Parkinson's disease.

Sun Ju Chung, Sebastian M Armasu, Joanna M Biernacka, Timothy G Lesnick, David N Rider, Sarah J Lincoln, Alexandra I Ortolaza, Matthew J Farrer, Julie M Cunningham, Walter A Rocca and 1 more

Abstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
2.7field-weighted citation impact, top 10% 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

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Review
  8. Article
  9. Review
  10. A Comprehensive Analysis of the Association BetweenFrontiers in molecular neuroscience · 2018
    Article
  11. Review
  12. Article
  13. Article
  14. Alpha-synuclein repeat variants and survival in Parkinson's disease.Movement disorders : official journal of the Movement Disorder Society · 2014
    Article
  15. Article
  16. Article
  17. Article
  18. A network view on Parkinson's disease.Computational and structural biotechnology journal · 2013
    Article
  19. Manganese homeostasis and transport.Metal ions in life sciences · 2013
    Article
  20. LRRK2: cause, risk, and mechanism.Journal of Parkinson's disease · 2013
    Review
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

11 authors at 3 institutions in 2 countries.

Sun Ju ChungDepartment of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Sebastian M Armasu
Joanna M Biernacka
Timothy G Lesnick
David N Rider
Sarah J Lincoln
Alexandra I Ortolaza
Matthew J Farrer
Julie M Cunningham
Walter A Rocca
Demetrius M Maraganore
Mayo Clinic in Florida · USMayo Clinic · USNorthShore University HealthSystem · US

Funding

SUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6M
Supplement-ES10751 (Molecular Epidemiology of PD)R01ES010751 · NIEHS · MAYO CLINIC ROCHESTER · PI MARAGANORE, DEMETRIUS MICHAEL · 2000 to 2010
$9.2M
ROCHESTER EPIDEMIOLOGY PROJECTR01AR030582 · NIAMS · MAYO CLINIC ROCHESTER · PI ROCCA, WALTER A · 1986 to 2009
$5.1M
NIAMS NIH HHS R01 AR030582NIA NIH HHS U01 AG006786NIEHS NIH HHS 2R01ES10751NIEHS NIH HHS R01 ES010751
6 · The paper itself

Abstract

Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species-conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case-control analyses were performed to study association with PD susceptibility, while cases-only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64-0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P-values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD.

Indexed as

Genetic LociGenetic VariationAgedAged, 80 and overAge of Onsetalpha-SynucleinCase-Control StudiesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHaplotypesHumansMaleOdds RatioParkinson Diseasealpha-SynucleinMAPT protein, humanparkin proteinSNCA protein, humantau ProteinsUbiquitin-Protein Ligases

Identifiers

PMID21412835
PMCPMC3606822
OpenAlexW2057759843

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.