Development of a Web site for the genetic epidemiology of endometriosis

Objective: Endometriosis is a complex trait, in which genetic and environmental factors act together to produce the phenotype. So far, research into candidate genes has largely been based on biological and clinical hypotheses. Results of these studies and the wealth of gene and marker sequence information from the Human Genome Project could-when brought together-provide the researcher with new etiological avenues to explore. Design: Online review. Setting: The Web site being developed draws together evidence of genetic variants associated with endometriosis and new etiological hypotheses. It incorporates links to up-to-date genomic information relevant to the candidates from a range of bioinformatics databases. Patient(s): Endometriosis cases and controls in association studies. Intervention(s): None. Main Outcome Measure(s): Allele and genotype frequencies. Result(s): The Web site summarizes the main hypotheses for endometriosis etiology that provide the basis for the search for genes involved, together with [1] the existing evidence of associations with candidate genes, with links to the relevant publications; [2] details of these candidate genes and the surrounding chromosomal area (location, function, polymorphisms, marker maps); [3] molecular biological findings, from studies of aberrant gene and protein expression in relevant tissues; and [4] chromosomal regions that have been implicated. Conclusion(s): This Web site should provide a useful information tool for the endometriosis researcher. We encourage researchers worldwide to use it, contribute to it, and share their knowledge about the condition.