Endometriosis, often in the form of 'chocolate cysts' of the ovary, has been reported in sisters rather frequently and at least twice in mother and daughter(s). Hinson et al. (1981) reported 2 sisters with pelvic endometriosis and catamenial ... Endometriosis, often in the form of 'chocolate cysts' of the ovary, has been reported in sisters rather frequently and at least twice in mother and daughter(s). Hinson et al. (1981) reported 2 sisters with pelvic endometriosis and catamenial pneumothorax. Both were typical of reported cases of catamenial pneumothorax in that pneumothorax was always on the right, occurred only with menses, and had onset in the fourth decade. Hormonal suppression of menses helped the symptoms. Diaphragmatic perforations were found at surgery in 1 of the sisters.
Treloar et al. (2005) sought to identify susceptibility loci for endometriosis using a positional-cloning approach starting with linkage analysis to identify genomic regions likely to harbor these genes. They conducted a linkage study of 1,176 families (931 Australian ... Treloar et al. (2005) sought to identify susceptibility loci for endometriosis using a positional-cloning approach starting with linkage analysis to identify genomic regions likely to harbor these genes. They conducted a linkage study of 1,176 families (931 Australian and 245 from the U.K.), each with at least 2 members, mainly affected sister pairs, with surgically diagnosed disease. They identified a region of significant linkage on 10q26 (maximum lod score = 3.09; genomewide P = 0.047) and another region of suggestive linkage on 20p13 (maximum lod score = 2.09). Minor peaks (with maximum lod scores greater than 1.0) were found on 8 other chromosomes. - Associations Pending Confirmation Uno et al. (2010) performed a genomewide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, and identified a significant association of endometriosis with dbSNP rs10965235 (p = 5.57 x 10(-12), odds ratio = 1.44), which is located in the CDKN2BAS gene (613149) on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA. By fine mapping, the SNP showing the strongest association was located in intron 16 of CDKN2BAS and was implicated in regulating the expression of p15 (see CDKN2B, 600431), p16 (see CDKN2A, 600160), and p14.