The International Endogene Study: a collection of families for genetic research in endometriosis

OBJECTIVE: The aim of the International Endogene Study is to discover genes that influence susceptibility to endometriosis. DESIGN: The study brings together two research groups based in Australia and the United Kingdom that independently have been collecting families for linkage analysis and candidate gene studies. Both groups used similar methods to recruit families, obtain clinical notes, assign disease status based on the operative records and available histology, and collect common clinical data including age at onset of symptoms, age at diagnosis, and symptoms experienced. SETTING: Recruitment has been mainly from Australia, the United Kingdom, and the United States. PATIENT(S): All affected participants have surgically confirmed disease. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Clinical and epidemiological data. RESULT(S): To date, >1,100 families with affected sisters have been recruited, and >1,200 triads (affected women and both parents), for case-control studies. CONCLUSION(S): We have created the largest resource yet assembled of clinical data and DNA for linkage and association studies in endometriosis. The increase in power to detect susceptibility genes vindicates the decision to merge the two studies and demonstrates the value of large-scale international collaboration.