Evidence map›Paper›PMID 26436106›Full record

ArticleMolecular genetics & genomic medicine2015

Novel recruitment strategy to enrich for LRRK2 mutation carriers.

Tatiana Foroud, Danielle Smith, Jacqueline Jackson, Jennifer Verbrugge, Cheryl Halter, Leah Wetherill, Katherine Sims, Winnie Xin, Vanessa Arnedo, Shirley Lasch and 2 more

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

13 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Genetic Testing for Parkinson Disease: Are We Ready?Neurology. Clinical practice · 2021
    Review
  5. Therapy of Parkinson's Disease Subtypes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020
    Review
  6. Emerging Targeted Therapeutics for Genetic Subtypes of Parkinsonism.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020
    Review
  7. Article
  8. Review
  9. Article
  10. Observational
  11. Article
  12. Article
  13. 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

12 authors at 5 institutions in 1 country.

Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
Danielle SmithDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
Jacqueline JacksonDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
Jennifer VerbruggeDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
Cheryl HalterDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
Leah WetherillDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
Katherine SimsDepartment of Neurology, Center for Human Genetic Research, Massachusetts General Hospital Boston, Massachusetts, 02114.
Winnie XinDepartment of Neurology, Center for Human Genetic Research, Massachusetts General Hospital Boston, Massachusetts, 02114.
Vanessa ArnedoMichael J. Fox Foundation New York City, New York.
Shirley LaschInstitute for Neurodegenerative Disorders New Haven, Connecticut, 06510.
Kenneth MarekInstitute for Neurodegenerative Disorders New Haven, Connecticut, 06510.
Parkinson's Progression Markers Initiativea
Indiana University – Purdue University Indianapolis · USIndiana University School of MedicineInstitute for Neurodegenerative Disorders · USMassachusetts General Hospital · USMichael J. Fox Foundation · US

Funding

Quality Assurance and Quality Control Project Management: Improving Submissions and Study Conduct in the Human Subjects Research Prior Approval ProcessUL1TR002529 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI MOE, SHARON M, WIEHE, SARAH ELIZABETH · 2018 to 2022
$27.2M
Indiana Clinical and Translational Sciences InstituteUL1TR001108 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI DENNE, SCOTT C., SHEKHAR, ANANTHA · 2013 to 2017
$23.3M
NCATS NIH HHS UL1 TR001108
6 · The paper itself

Abstract

The LRRK2 G2019S mutation is found at higher frequency among Parkinson disease (PD) patients of Ashkenazi Jewish (AJ) ancestry. This study was designed to test whether an internet-based approach could be an effective approach to screen and identify mutation carriers. Individuals with and without PD of AJ ancestry were recruited and consented through an internet-based study website. An algorithm was applied to a series of screening questions to identify individuals at increased risk to carry the LRRK2 G2019S mutation. About 1000 individuals completed the initial screening. Around 741 qualified for mutation testing and 650 were tested. Seventy-two individuals carried at least one LRRK2 G2019S mutation; 38 with PD (12.5%) and 34 without (10.1%). Among the AJ PD participants, each affected first-degree relative increased the likelihood the individual was LRRK2+ [OR = 4.7; 95% confidence interval = (2.4-9.0)]. The same was not observed among the unaffected AJ subjects (P = 0.11). An internet-based approach successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation. A similar approach could be implemented in other disorders to identify individuals for clinical trials, biomarker analyses and other types of research studies.

Indexed as

genetic testingLRRK2Parkinson disease

Identifiers

PMID26436106
PMCPMC4585448
OpenAlexW1567773326

What OpenQuestion holds

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Registered trials

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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.