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Study Description

This proposal brings together the two largest NIH funded genetic studies focused on the identification of novel genes that influence the risk of PD. These two studies, PROGENI (PI: Tatiana Foroud; R01NS037167) and GenePD (PI: Richard Myers; R01NS036711) have been evaluating and recruiting families with two or more PD affected members for more than 8 years and represent the largest such cohorts world-wide. The combined sample has more than 1,000 PD families. Each study has used rigorous clinical criteria to assess their study participants.

Unlike previous genome wide association studies (GWAS) in PD, all the PD cases in this proposal have a positive family history of disease. In the vast majority of these families, the index PD case has at least one sibling with the disease. Thus, the sample is unique for having substantial evidence for a genetic contribution to disease. The control group for this study consists of samples previously collected and maintained by the NINDS Repository.

Genome-wide, single nucleotide polymorphism (SNP) genotyping services were provided by the Center for Inherited Disease Research (CIDR).

Data analyses will focus on the identification of SNPs associated with PD susceptibility and the age of onset of disease.

Authorized Access
Publicly Available Data
Study Inclusion/Exclusion Criteria

PD Diagnostic Criteria:
Both studies have employed PD diagnostic criteria based broadly on the United Kingdom PD Society Brain Bank Criteria [Gibb and Lees 1988]. While each study has slightly modified these criteria, the diagnostic criteria from the two studies are compatible and similar enough to allow the PD samples from the two studies to be combined.

Control Samples:
Control samples were obtained from the NINDS Repository and include only Caucasian, non-Hispanic subjects. They all are negative for neurological disease based on self-report. They do not have a family history of any neurodegenerative disease.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanCNV370v1 370404 1047132
Study History

These two studies of familial PD have been ongoing for nearly a decade. They have each actively ascertained families with PD and used rigorous clinical criteria to assess their study participants. Subjects have been recruited through international collaborations, although both studies have primarily recruited Caucasian subjects. Each study has completed extensive genetic analyses to elucidate the role of recently identified genes such as parkin and LRRK2, as well as to identify novel genetic risk factors. In addition, both studies have performed whole genome linkage studies which have detected evidence of specific chromosomal regions influencing PD risk. Thus, a GWA study using the combined samples from each study has the potential to maximize the power to detect genetic risk factors of relatively small effect size.

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
Study Attribution
  • Co-Principal Investigators
    • Tatiana Foroud, PhD. Indiana University School of Medicine, Indianapolis, IN, USA.
    • Richard H. Myers, PhD. Boston University School of Medicine, Boston, MA, USA.
  • Co-Investigators
    • Nathan Pankratz, PhD. Indiana University School of Medicine, Indianapolis, IN, USA.
    • Anita L. DeStefano, PhD. Boston University School of Public Health, Boston, MA, USA.
    • Jemma B. Wilk, DSc. Boston University School of Medicine, Boston, MA, USA.
    • William C. Nichols, PhD. Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
    • James F. Gusella, PhD. Massachusetts General Hospital, Boston, MA, USA.
  • Genotyping Center
    • Johns Hopkins University Center for Inherited Disease Research (CIDR), Baltimore, MD, USA.
  • Funding Source for Genotyping
    • HHSN268200782096C. NIH contract "High throughput genotyping for studying the genetic contributions to human disease". National Institutes of Health, Bethesda, MD, USA.