Tracking the epidemiology of human genes in the literature: The HuGE Published Literature database

Completion of the human genome sequence has inspired a new wave of epidemiologic studies on the prevalence of gene variants and their associations with diseases in human populations. In 2001, the Human Genome Epidemiology (HuGE) Network launched the HuGE Published Literature database (HuGE Pub Lit), a searchable, online knowledge base of published, population-based epidemiologic studies of human genes. The database contains links to PubMed articles and can be searched by gene, disease, interacting factor, type of study design or analysis, or any combination of terms in these categories. The search output contains a link to each identified article, along with a table summarizing key features of the reported study. As of September 6, 2005, some 17,665 articles were indexed in the database. Most described gene-disease associations (86%); fewer evaluated gene-gene or gene-environment interactions (17%), the prevalence of gene variants (10%), or genetic tests (3%). Although not comprehensive, this database is a unique tool for epidemiologic researchers and others concerned with the role of genetic variation in population health. Here, the authors provide an overview of the database and its characteristics and uses.