There is one clinical trial.
Endometriosis, defined as the presence of endometrial tissue outside the uterine cavity, affects 6-10% of the general population of women in childbearing age. The pathogenesis of the disease is unknown. The purpose of this study is to evaluate the influence of certain polymorphisms of genes WNT4, VEZT, FSHB, known to be involved in molecular mechanisms associated with phenomena of proliferation and development of endometriotic lesions, and SIRT1, that based on metabolomics studies, could hypothetically have a role in the pathogenesis of the disease. The study focus on the Sardinian population, known to have unique genetic characteristics due to geographical isolation.
At present, 19 independent single-nucleotide polymorphisms (SNPs) have been validly associated with endometriosis, explaining 5.19% of the variance of the disease.In particular, a recent study investigated three of these SNPs on the Greek population: rs7521902, rs10859871 and rs11031006, mapped respectively on the WNT4, VEZT and FSHB genes, highlighting a significant association with endometriosis.
The extended GWAS of the Sapkota group identifies a significant association between the rs11031006 polymorphism and the risk of endometriosis.
The study will be carried out by molecular typing of the following single substitution polymorphisms (SNPs): rs7521902, rs10859871, rs11031006, rs2273773, mapped respectively in the WNT4, VEZT, FSHB and SIRT1 genes.