Due to familial aggregation of endometriosis, knowing the genetic risk factor associated with this disease would be helpful to set up primary prevention measures. However, so far, no candidate genes for the disease have been consistently replicated in different populations. We have genotyped, in an Italian population, four genetic variants that resulted associated with endometriosis in two previous genome-wide association study (GWAS) conducted for this disease. Results of the association study and meta-analysis with previous GWAS confirmed CDKN2BAS, WNT4 and FN1 as the first identified common loci involved in the susceptibility to endometriosis. (By Luca Pagliardini,  http://jmg.bmj.com/content/early/2012/11/08/jmedgenet-2012-101257 )