Molecular Epidemiology of Parkinson's Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00042107
Recruitment Status : Completed
First Posted : July 26, 2002
Last Update Posted : September 29, 2014
Information provided by:
National Institute of Environmental Health Sciences (NIEHS)

Brief Summary:
The aim of this research is to discover genes which modify risk for Parkinson's disease. The study includes 800 patients with Parkinson's disease, and their estimated 1,222 available siblings. Common variations of at least 9 genes will be studied, including genes associated with personality, substance use, and anxiety and depression.

Condition or disease
Parkinson Disease

Detailed Description:
Parkinson's disease (PD) is a common and disabling condition in the expanding elderly population of the US and worldwide. Its etiology remains unknown and both genetic and environmental factors have been suspected. The long-term goal of the proposed studies is to clarify the etiology of PD and to identify means to prevent it. Specifically, we will study the association of PD with susceptibility genes previously found associated with novelty seeking behavior, substance use (tobacco, alcohol, and caffeine), and anxiety and depressive disorders. The hypotheses tested derive directly from our current work and preliminary findings. We will employ the case-unaffected sibling control study design and analyses will use a generalization of the sibling transmission dysequilibrium test, or "S-TDT". In total, nine candidate susceptibility genes will be considered, of which only five have undergone limited study for PD. The candidate susceptibility genes include three detoxification genes, three dopaminergic genes, and three serotonergic genes. We will include 800 cases of PD referred to the Mayo Clinic from a 120-mile radius or from a 5-state region during approximately a 10-year period. We will also include their eligible siblings age 40 years or above, projecting that blood DNA samples will be available for 563 affected probands or siblings and 1,180 unaffected siblings stratified in 521 informative sibships. Sibships with multiple affected or unaffected siblings will be included. PD cases will undergo a clinical assessment and blood sampling, and provide family information through a face-to-face interview followed by a written mail-in form. All living siblings ages 40 and above will be screened for PD using a validated telephone instrument. Subjects screening negative for PD will provide DNA with mail-in blood sampling kits only. Persons screening positive will be clinically assessed at the Mayo Clinic or at home, and blood DNA samples will be directly obtained. Genotyping will be performed using polymerase chain reaction methods and will be blinded to affected or unaffected status. The study will avoid population stratification bias by using sibling controls. The candidate susceptibility genes selected for primary analyses relate to personality traits, substance use, and psychiatric diseases that we have found associated with PD. The selection of these genes represents a major paradigm shift. We will also establish a large DNA bank for rapid and efficient testing of new genetic hypothesis for PD. This application is submitted in response to RFA ES-00-002 ("The Role of the Environment in Parkinson's Disease"). We specifically address the RFA's objectives of evaluating endogenous (including biomarkers) and exogenous (including dietary and lifestyle) susceptibility factors for PD using molecular epidemiology tools.

Study Type : Observational
Estimated Enrollment : 2022 participants
Study Start Date : September 2000
Study Completion Date : June 2005

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Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Patients with Parkinson's disease recruited from the Department of Neurology, Mayo Clinic, Rochester MN, residing in MN or the surrounding 4 states (WI, IA, SD, ND); their siblings above age 40.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00042107

United States, Minnesota
Department of Neurology, Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
National Institute of Environmental Health Sciences (NIEHS)
Principal Investigator: Demetrius M Maraganore, MD Department of Neurology, Mayo Clinic Rochester Identifier: NCT00042107     History of Changes
Other Study ID Numbers: 10751-CP-001
First Posted: July 26, 2002    Key Record Dates
Last Update Posted: September 29, 2014
Last Verified: July 2002

Keywords provided by National Institute of Environmental Health Sciences (NIEHS):
Parkinson Disease

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases