PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study

Anita L DeStefano; Mark F Lew; Lawrence I Golbe; Margery H Mark; Alice M Lazzarini; Mark Guttman; Erwin Montgomery; Cheryl H Waters; Carlos Singer; Ray L Watts; Lillian J Currie; G. Frederick Wooten; Nancy E Maher; Jemma B Wilk; Kristin M Sullivan; Karen M Slater; Marie H Saint-Hilaire; Robert G Feldman; Oksana Suchowersky; Anne-Louise Lafontaine; Nancy Labelle; John H Growdon; Peter Vieregge; Peter P Pramstaller; Christine Klein; Jean P Hubble; Carson R Reider; Mark Stacy; Marcy E MacDonald; James F Gusella; Richard H Myers

doi:10.1086/339814

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PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study

Journal article

Open access

Peer reviewed

PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study

Anita L DeStefano, Mark F Lew, Lawrence I Golbe, Margery H Mark, Alice M Lazzarini, Mark Guttman, Erwin Montgomery, Cheryl H Waters, Carlos Singer, Ray L Watts, …

American journal of human genetics, Vol.70(5), pp.1089-1095

2002-05

DOI: https://doi.org/10.1086/339814

PMCID: PMC447587

PMID: 11920285

Abstract

Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P=.02). This 174 allele is common to the PD haplotype observed in two families that show linkage to PARK3 and have autosomal dominant PD, which suggests that this allele may be in linkage disequilibrium with a mutation influencing PD susceptibility or age at onset of PD.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.67 Parkinson's Disease
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study
Creators: Anita L DeStefano - Departments of Neurology University Schools of Medicine and of Public Health
Mark F Lew - Department of Neurology, University of Southern California, Los Angeles
Lawrence I Golbe - Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, NJ
Margery H Mark - Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, NJ
Alice M Lazzarini - Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, NJ
Mark Guttman - Department of Medicine, University of Toronto, Toronto
Erwin Montgomery - Departments of Neurology and Neuroscience, Cleveland Clinic Foundation, Cleveland
Cheryl H Waters - Department of Neurology, University of Southern California, Los Angeles
Carlos Singer - Department of Neurology, University of Miami, Miami
Ray L Watts - Department of Neurology, Emory University School of Medicine, Atlanta
Lillian J Currie - Department of Neurology, University of Virginia Health System, Charlottesville, VA
G. Frederick Wooten - Department of Neurology, University of Virginia Health System, Charlottesville, VA
Nancy E Maher - Departments of Neurology University Schools of Medicine and of Public Health
Jemma B Wilk - Departments of Neurology University Schools of Medicine and of Public Health
Kristin M Sullivan - Departments of Neurology University Schools of Medicine and of Public Health
Karen M Slater - Departments of Neurology University Schools of Medicine and of Public Health
Marie H Saint-Hilaire - Departments of Neurology University Schools of Medicine and of Public Health
Robert G Feldman - Departments of Neurology University Schools of Medicine and of Public Health
Oksana Suchowersky - Departments of Clinical Neurosciences and Medical Genetics, University of Calgary, Calgary
Anne-Louise Lafontaine - Departments of Clinical Neurosciences and Medical Genetics, University of Calgary, Calgary
Nancy Labelle - Departments of Clinical Neurosciences and Medical Genetics, University of Calgary, Calgary
John H Growdon - Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston
Peter Vieregge - Department of Neurology, Medical University of Lübeck, Lübeck, Germany
Peter P Pramstaller - Department of Neurology, General Regional Hospital Bolzano, Bolzano, Italy
Christine Klein - Department of Neurology, Medical University of Lübeck, Lübeck, Germany
Jean P Hubble - Department of Neurology, Ohio State University, Columbus, OH
Carson R Reider - Department of Neurology, Ohio State University, Columbus, OH
Mark Stacy - Department of Neurology, Barrow Clinic, Phoenix
Marcy E MacDonald - Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston
James F Gusella - Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston
Richard H Myers - Departments of Neurology University Schools of Medicine and of Public Health
Publication Details: American journal of human genetics, Vol.70(5), pp.1089-1095
Publisher: Elsevier Inc
Academic Unit: Miller School of Medicine; UMMG Department of Neurology
Language: English
Resource Type: Journal article
PMID: 11920285
PMCID: PMC447587
Record Identifier: 991031559753802976