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Background  Endometriosis is a complex disease affecting 10–15% of women at reproductive age. Very few genes are known to be altered in this pathology. RIP140 protein is an important cofactor of oestrogen receptor and many other nuclear receptors. Targeting disruption experiments of  nrip1  gene in mice have demonstrated that nuclear receptor interacting protein 1 gene ( nrip1 ), the gene encoding for rip140 protein, is essential for female fertility. Specifically, mice null for  nrip1  gene are viable, but females are infertile because of complete failure of mature follicles to release oocytes at ovulation stage. The ovarian phenotype observed in mice devoid of rip140 closely resembles the luteinized unruptured follicle (LUF) syndrome that is observed in a high proportion of women affected of endometriosis or idiopathic infertility. Here we present a preliminary work that analyses the role of  NRIP1  gene in humans.    Methods  We have sequenced the complete coding region of  NRIP1  gene in 20 unrelated patients affected by endometriosis. We have performed genetic association studies by using the DNA variants identified during the sequencing process.    Results  We identified six DNA variants within the coding sequence of  NRIP1  gene, and five of them generated amino acid changes in the protein. We observed that three of twenty sequenced patients have specific combinations of amino-acid variants within the RIP140 protein that are poorly represented in the control population (p = 0.006). Moreover, we found that Arg448Gly, a common polymorphism located within  NRIP1  gene, is associated with endometriosis in a case-control study (59 cases and 141 controls, p allele positivity test  = 0.027).    Conclusion  Our results suggest that  NRIP1  gene variants, separately or in combinations, might act as predisposing factors for human endometriosis.

Preliminary molecular genetic analysis of the Receptor Interacting Protein 140 (RIP140) in women affected by endometriosis