Genetic linkage and epidemiological analyses in a multigenerational pedigree of rhesus macaques with spontaneous endometriosis

Non-human primates are the only species that develop endometriosis spontaneously, identical to that seen in women. In 2004, we established familial aggregation of endometriosis in the rhesus macaque (RM) for the first time, using computerised routine diagnostic data from a large complex pedigree of 1,806 animals in the US. Publication of the RM genome and availability of microsatellite markers now allows us to conduct the first genetic studies in the pedigree. We recently replicated our significant linkage signal on human chromosome 7, on orthologous RM chromosome 3, and are currently following up these results through the above-mentioned resequencing study in humans.  Further plans in the RM pedigree include a whole-genome linkage scan, the investigation of specific genetic variants showing association in women, and of the relative contribution of environmental factors though analysis of computerised records.