Evidence map›Paper›PMID 21488853›Full record

ArticleAnnals of human genetics2011

A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6.

Anna C Cummings, Stephen L Lee, Jacob L McCauley, Lan Jiang, Amy Crunk, Lynne L McFarland, Paul J Gallins, Denise Fuzzell, Clare Knebusch, Charles E Jackson and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Annals of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. The GGLEAM Study: Understanding Glaucoma in the Ohio Amish.International journal of environmental research and public health · 2021
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. 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

13 authors at 5 institutions in 2 countries.

Anna C CummingsCenter for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA.
Stephen L Lee
Jacob L McCauley
Lan Jiang
Amy Crunk
Lynne L McFarland
Paul J Gallins
Denise Fuzzell
Clare Knebusch
Charles E Jackson
William K Scott
Margaret A Pericak-Vance
Jonathan L Haines
Center for Human Genetics · USDr. John T. Macdonald Foundation · USVanderbilt University Medical Center · USBaylor Scott & White Medical Center - Temple · USDartmouth College · US

Funding

Genetic Studies of Dementia in the AmishR01AG019085 · NIA · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 2001 to 2011
$11.0M
Genetic Studies of Successful Aging in the AmishR01AG019726 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SCOTT, WILLIAM K. · 2003 to 2007
$2.9M
Genetic Analysis of Parkinsonism in an Ohio Amish FamilyK08NS044298 · NINDS · VANDERBILT UNIVERSITY · PI LEE, STEPHEN L. · 2003 to 2007
$829k
NIA NIH HHS AG019085NIA NIH HHS AG019726NIA NIH HHS R01 AG019085NIA NIH HHS R01 AG019726NINDS NIH HHS K08 NS044298
6 · The paper itself

Abstract

Parkinson disease (PD) is a common complex neurodegenerative disorder with an underlying genetic etiology that has been difficult to dissect. Although some PD risk genes have been discovered, most of the underlying genetic etiology remains unknown. To further elucidate the genetic component, we have undertaken a genome-wide linkage screen in an isolated founder population of Amish living in the Midwestern United States. We performed tests for linkage and for association using a marker set of nearly 6000 single-nucleotide polymorphisms. Parametric multipoint linkage analysis generated a logarithm of the odds of linkage (LOD) score of 2.44 on chromosome 6 in the SYNE1 gene, approximately 8 Mbp from the PARK2 gene. In a different region on chromosome 6 (∼67 Mbp from PARK2) an association was found for rs4302647 (p < 4.0 × 10(-6) ), which is not within 300 kb of any gene. While the association exceeds Bonferroni correction, it may yet represent a false positive due to the small sample size and the low minor allele frequency. The minor allele frequency in affecteds is 0.07 compared to 0.01 in unaffecteds. Taken together, these results support involvement of loci on chromosome 6 in the genetic etiology of PD.

Indexed as

Chromosomes, Human, Pair 6Genetic Predisposition to DiseaseGenome-Wide Association StudyAgedFemaleHumansIndianaMaleOhioParkinson DiseasePolymorphism, Single Nucleotide

Identifiers

PMID21488853
PMCPMC3077806
OpenAlexW1767653793

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.