Evidence map›Paper›PMID 24842889›Full record

ArticleHuman molecular genetics2014

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

Vladimir Vacic, Laurie J Ozelius, Lorraine N Clark, Anat Bar-Shira, Mali Gana-Weisz, Tanya Gurevich, Alexander Gusev, Merav Kedmi, Eimear E Kenny, Xinmin Liu and 20 more

Abstract read
In one paragraph

Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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  4. Article
  5. Article
  6. Journal of Parkinson's disease · 2024
    Article
  7. Genes · 2023
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  13. Genes · 2021
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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

30 authors.

Vladimir VacicDepartment of Computer Science, Columbia University, New York, NY, USA.
Laurie J OzeliusDepartment of Genetics and Genomic Sciences and Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA.
Lorraine N ClarkDepartment of Pathology and Cell Biology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain.
Anat Bar-ShiraGenetic Institute and.
Mali Gana-WeiszGenetic Institute and.
Tanya GurevichDepartment of Neurology, Movement Disorders Unit and Parkinson Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Alexander GusevDepartment of Computer Science, Columbia University, New York, NY, USA.
Merav KedmiGenetic Institute and.
Eimear E KennyDepartment of Computer Science, Columbia University, New York, NY, USA.
Xinmin LiuDepartment of Pathology and Cell Biology.
Helen Mejia-SantanaGertrude H. Sergievsky Center.
Anat MirelmanDepartment of Neurology, Movement Disorders Unit and Parkinson Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Deborah RaymondMirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA.
Rachel Saunders-PullmanMirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA The Saul R. Korey Department of Neurology.
Robert J DesnickDepartment of Genetics and Genomic Sciences and.
Gil AtzmonDepartment of Medicine, Department of Genetics, Institute for Aging Research.
Edward R BurnsDepartment of Medicine.
Harry OstrerDepartment of Genetics, Department of Pathology, Department of Pediatrics.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Aviv BergmanDepartment of Systems and Computational Biology and.
Nir BarzilaiDepartment of Medicine, Department of Genetics, Institute for Aging Research.
Ariel DarvasiDepartment of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Givat Ram, Jerusalem, Israel.
Inga PeterDepartment of Genetics and Genomic Sciences and.
Saurav GuhaDepartment of Genetics and Genomic Sciences and Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of the North Shore-Long Island Jewish Health System, Glen Oaks, NY, USA.
Todd LenczDepartment of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of the North Shore-Long Island Jewish Health System, Glen Oaks, NY, USA Center for Psychiatric Neuroscience, The Feinstein Institute for Medical Research, Manhasset, NY, USA Department of Psychiatry and Behavioral Science, Albert Einstein College of Medicine, Bronx, NY, USA Department of Psychiatry and Department of Molecular Medicine, Hofstra University School of Medicine, Hempstead, NY, USA.
Nir GiladiDepartment of Neurology, Movement Disorders Unit and Parkinson Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Karen MarderTaub Institute for Research on Alzheimer's Disease and the Aging Brain, Gertrude H. Sergievsky Center, Department of Neurology and Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Itsik Pe'erDepartment of Computer Science, Columbia University, New York, NY, USA itsik@cs.columbia.edu.
Susan B BressmanMirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA The Saul R. Korey Department of Neurology.
Avi Orr-UrtregerGenetic Institute and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Funding

CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0M
Stable Isotope and Metabolomics CoreP60DK020541 · NIDDK · YESHIVA UNIVERSITY · PI FLEISCHER, NORMAN S. · 1986 to 2014
$29.8M
Translational Research CoreP30DK020541 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI JEFFREY E. PESSIN · 2015 to 2026
$27.7M
ROLE OF NUTRIENTS IN AGE-RELATED INSULIN RESISTANCEP01AG021654 · NIA · YESHIVA UNIVERSITY · PI ROSSETTI, LUCIANO · 2003 to 2007
$10.6M
GENETIC EPIDEMIOLOGY OF PARKINSONS DISEASER01NS036630 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARDER, KAREN S · 1998 to 2008
$6.8M
Longevity Genes in Founder PopulationsR01AG018728 · NIA · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2001 to 2005
$3.8M
Common and Rare Genetic Factors in an Ethnically Homogeneous Schizophrenia CohortRC2MH089964 · NIMH · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI LENCZ, TODD · 2009 to 2010
$3.5M
Epigenetic Profiling in Healthy Aging and Exceptional LongevityR01AG042188 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI ATZMON, GIL, BARZILAI, NIR J · 2011 to 2015
$2.0M
A Systems Methodology for the Biology of AgingR01AG028872 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI BERGMAN, AVIV · 2007 to 2011
$1.8M
Molecular Genetic Analysis of Lysosomal Storage Disorder Genes in PDR01NS060113 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N · 2008 to 2011
$1.4M
Phenotypic Spectrum of LRRK2 MutationsK02NS073836 · NINDS · BETH ISRAEL MEDICAL CTR (NEW YORK) · PI SAUNDERS-PULLMAN, RACHEL · 2011 to 2015
$879k
Genetic Epidemiology of Parkinson's DiseaseR56NS036630 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARDER, KAREN S · 2010 to 2010
$500k
NCRR NIH HHS UL1 RR024156NIA NIH HHS AG021654-01NIA NIH HHS AG028872NIA NIH HHS AG042188NIA NIH HHS AG-18728-02A1NIA NIH HHS P01 AG021654NIA NIH HHS R01 AG018728NIA NIH HHS R01 AG028872NIA NIH HHS R01 AG042188NIDDK NIH HHS DK20541NIDDK NIH HHS P30 DK020541NIDDK NIH HHS P60 DK020541NIMH NIH HHS RC2 MH089964NIMH NIH HHS RC2MH089964NINDS NIH HHS K02 NS073836NINDS NIH HHS NS036630NINDS NIH HHS NS050487NINDS NIH HHS NS060113NINDS NIH HHS R01 NS036630NINDS NIH HHS R01 NS060113NINDS NIH HHS R21 NS050487NINDS NIH HHS R56 NS036630
6 · The paper itself

Abstract

The recent series of large genome-wide association studies in European and Japanese cohorts established that Parkinson disease (PD) has a substantial genetic component. To further investigate the genetic landscape of PD, we performed a genome-wide scan in the largest to date Ashkenazi Jewish cohort of 1130 Parkinson patients and 2611 pooled controls. Motivated by the reduced disease allele heterogeneity and a high degree of identical-by-descent (IBD) haplotype sharing in this founder population, we conducted a haplotype association study based on mapping of shared IBD segments. We observed significant haplotype association signals at three previously implicated Parkinson loci: LRRK2 (OR = 12.05, P = 1.23 × 10(-56)), MAPT (OR = 0.62, P = 1.78 × 10(-11)) and GBA (multiple distinct haplotypes, OR > 8.28, P = 1.13 × 10(-11) and OR = 2.50, P = 1.22 × 10(-9)). In addition, we identified a novel association signal on chr2q14.3 coming from a rare haplotype (OR = 22.58, P = 1.21 × 10(-10)) and replicated it in a secondary cohort of 306 Ashkenazi PD cases and 2583 controls. Our results highlight the power of our haplotype association method, particularly useful in studies of founder populations, and reaffirm the benefits of studying complex diseases in Ashkenazi Jewish cohorts.

Indexed as

Chromosome MappingGenealogy and HeraldryGenetic Predisposition to DiseaseGenome-Wide Association StudyAgedCohort StudiesDemographyEthnicityFemaleGenetic LociHaplotypesHumansMaleParkinson DiseasePolymorphism, Single NucleotideReproducibility of Results

Identifiers

PMID24842889
PMCPMC4119402

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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.