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Human Genetics

, 124:95 | Cite as

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

  • Anita L. DeStefanoEmail author
  • Jeanne Latourelle
  • Mark F. Lew
  • Oksana Suchowersky
  • Christine Klein
  • Lawrence I. Golbe
  • Margery H. Mark
  • John H. Growdon
  • G. Fredrick Wooten
  • Ray Watts
  • Mark Guttman
  • Brad A. Racette
  • Joel S. Perlmutter
  • Lynn Marlor
  • Holly A. Shill
  • Carlos Singer
  • Stefano Goldwurm
  • Gianni Pezzoli
  • Marie H. Saint-Hilaire
  • Audrey E. Hendricks
  • Adam Gower
  • Sally Williamson
  • Michael W. Nagle
  • Jemma B. Wilk
  • Tiffany Massood
  • Karen W. Huskey
  • Kenneth B. Baker
  • Ilia Itin
  • Irene Litvan
  • Garth Nicholson
  • Alastair Corbett
  • Martha Nance
  • Edward Drasby
  • Stuart Isaacson
  • David J. Burn
  • Patrick F. Chinnery
  • Peter P. Pramstaller
  • Jomana Al-hinti
  • Anette T. Moller
  • Karen Ostergaard
  • Scott J. Sherman
  • Richard Roxburgh
  • Barry Snow
  • John T. Slevin
  • Franca Cambi
  • James F. Gusella
  • Richard H. Myers
Original Investigation

Abstract

Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current study we genotyped three single nucleotide polymorphisms in ELAVL4 in a Caucasian study sample consisting of 712 PD patients and 312 unrelated controls from the GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD population. The minor allele of rs967582 was also the risk allele for PD affection or earlier onset age in the previously studied populations. This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene.

Keywords

Parkinson Disease Meta Analysis Single Nucleotide Polymorphism Rs967582 Parkinson Disease Patient Parkin Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

This study was supported by PHS grant R01 NS36711-05 “Genetic Linkage Study in PD” and the Bumpus Foundation. The DNA samples contributed by the Parkinson Institute—Istituti Clinici di Perfezionamento, Milan, Italy, were from the “Human genetic bank of patients affected by PD and parkinsonisms,” supported by Italian Telethon grant n. GTF04007 and by the “Fondazione Grigioni per il Morbo di Parkinson.”

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Anita L. DeStefano
    • 1
    • 2
    Email author
  • Jeanne Latourelle
    • 2
  • Mark F. Lew
    • 3
  • Oksana Suchowersky
    • 4
  • Christine Klein
    • 5
  • Lawrence I. Golbe
    • 6
  • Margery H. Mark
    • 6
  • John H. Growdon
    • 7
  • G. Fredrick Wooten
    • 8
  • Ray Watts
    • 9
  • Mark Guttman
    • 10
  • Brad A. Racette
    • 11
  • Joel S. Perlmutter
    • 11
  • Lynn Marlor
    • 12
  • Holly A. Shill
    • 13
  • Carlos Singer
    • 14
  • Stefano Goldwurm
    • 15
  • Gianni Pezzoli
    • 15
  • Marie H. Saint-Hilaire
    • 2
  • Audrey E. Hendricks
    • 1
  • Adam Gower
    • 16
  • Sally Williamson
    • 2
  • Michael W. Nagle
    • 2
  • Jemma B. Wilk
    • 2
  • Tiffany Massood
    • 2
  • Karen W. Huskey
    • 1
    • 2
  • Kenneth B. Baker
    • 17
  • Ilia Itin
    • 17
  • Irene Litvan
    • 18
  • Garth Nicholson
    • 19
  • Alastair Corbett
    • 19
  • Martha Nance
    • 20
  • Edward Drasby
    • 21
  • Stuart Isaacson
    • 22
  • David J. Burn
    • 23
  • Patrick F. Chinnery
    • 23
  • Peter P. Pramstaller
    • 24
  • Jomana Al-hinti
    • 25
  • Anette T. Moller
    • 26
  • Karen Ostergaard
    • 26
  • Scott J. Sherman
    • 27
  • Richard Roxburgh
    • 28
  • Barry Snow
    • 28
  • John T. Slevin
    • 29
  • Franca Cambi
    • 29
  • James F. Gusella
    • 30
  • Richard H. Myers
    • 2
  1. 1.Department of BiostatisticsBoston University School of Public HealthBostonUSA
  2. 2.Department of NeurologyBoston University School of MedicineBostonUSA
  3. 3.Department of NeurologyUniversity Southern California School of MedicineLos AngelesUSA
  4. 4.Department of Clinical NeuroscienceUniversity of CalgaryCalgaryCanada
  5. 5.Department of NeurologyUniversity of LübeckLübeckGermany
  6. 6.Department of NeurologyUniversity of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical SchoolNew BrunswickUSA
  7. 7.Department of NeurologyMassachusetts General HospitalBostonUSA
  8. 8.Department of NeurologyUniversity of Virginia Health SystemCharlottesvilleUSA
  9. 9.Department of NeurologyUniversity of Alabama at BirminghamBirminghamUSA
  10. 10.Department of MedicineUniversity of TorontoTorontoCanada
  11. 11.Department of NeurologyWashington University School of MedicineSaint LouisUSA
  12. 12.Barrow Neurological InstitutePhoenixUSA
  13. 13.Sun Health Research InstituteSun CityUSA
  14. 14.Department of NeurologyUniversity of MiamiMiamiUSA
  15. 15.Parkinson Institute, Istituti Clinici di PerfezionamentoMilanItaly
  16. 16.Department of BioinformaticsBoston UniversityBostonUSA
  17. 17.Departments of Neurology and NeuroscienceCleveland Clinic FoundationClevelandUSA
  18. 18.Department of NeurologyUniversity of Louisville School of MedicineLouisvilleUSA
  19. 19.Neurology DepartmentUniversity of Sydney ANZAC Research Institute, Concord HospitalSydneyAustralia
  20. 20.Struthers Parkinson’s CenterMinneapolisUSA
  21. 21.Port City NeurologyScarboroughUSA
  22. 22.Parkinson’s Disease and Movement Disorder Center of Boca RatonBoca RatonUSA
  23. 23.Institute for Ageing and Health/Regional Neurosciences CentreNewcastle UniversityNewcastle upon TyneUK
  24. 24.Department of NeurologyGeneral Regional Hospital BolzanoBolzanoItaly
  25. 25.Department of NeurologyUniversity of Arkansas for Medical SciencesLittle RockUSA
  26. 26.Department of NeurologyAarhus University HospitalAarhusDenmark
  27. 27.Department of NeurologyUniversity of ArizonaTucsonUSA
  28. 28.Department of NeurologyAuckland City HospitalAucklandNew Zealand
  29. 29.Department of NeurologyUniversity of Kentucky College of MedicineLexingtonUSA
  30. 30.Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General HospitalHarvard Medical School BostonBostonUSA

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