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Department of Obstetrics and Gynecology, Baylor College of Medicine, 6550 Fannin, Suite 885, Room 701, Houston, TX 77030, USA. bischoff@bcm.tmc.edu
Endometriosis is a complex gynecologic disorder that affects as many as 10-15% of premenopausal women. Epidemiologic studies have confirmed that this disease is a genetic disorder of polygenic/multifactorial inheritance. The disorder has long been recognized to show heritable tendencies with recurrence risks of 5-7% for first-degree relatives. The current investigational goal is to determine the number and location of causative genes, a process that has been made possible by recent advances in molecular technology. This chapter discusses heritability studies supporting polygenic/multifactorial inheritance, the scientific basis of genome-wide strategies for identifying causative genes and potential candidate genes.
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