A Diagnostics & Imaging Week

The National Library of Medicine (NLM), part of the National Institutes of Health, has introduced the database of Genome and Phenotype (dbGaP), a database designed to archive and distribute data from genome wide association (GWA) studies.

GWA studies explore the association between specific genes (genotype information) and observable traits, such as blood pressure and weight, or the presence or absence of a disease or condition (phenotype information). Connecting phenotype and genotype data provides information about the genes that may be involved in a disease process or condition, critical for understanding the disease and for developing new diagnostic methods and treatments.

dbGaP will for the first time provide a central location for interested parties to see all study documentation and to view summaries of the measured variables in an organized and searchable web format. dbGaP also will provide pre-computed analyses of the level of statistical association between genes and selected phenotypes. Genotype data are obtained by using high-throughput genotyping arrays to test subjects' DNA for single nucleotide polymorphisms (SNPs).

dbGaP was developed and will be managed by the National Center for Biotechnology Information. dbGaP is located at the web address http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gap.

The initial release of dbGaP contains data on two studies: the Age-Related Eye Diseases Study (AREDS), a 600-subject, multi-center, case-controlled, study of the clinical course of age-related macular degeneration and age-related cataracts that was supported by the National Eye Institute (NEI); and the National Institute of Neurological Disorders and Stroke (NINDS) Parkinsonism Study, a case-controlled study that gathered DNA, cell line samples and detailed phenotypic data on 2,573 subjects.

Paul Sieving, MD, PhD, director of NEI, said the availability of this information "will help researchers better understand gene-based eye diseases, will likely speed development of effective therapies and, thereby, will be a worthwhile investment for the taxpayers who funded this important medical research."

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