SNP analysis of endometriosis candidate genes
MCC-Dr. Jonathan Lancaster
PSM- Dr. Idhaliz Flores
SNP analysis of Endometriosis Candidate Genes (funded by NIH grant # R01HD050559). Endometriosis is a poorly understood condition that continues to incapacitate and affect the productivity and lifestyle of millions of women around the world, whilst imposing an intellectual challenge to medical doctors and researchers alike. Endometrial implants in the peritoneum cause inflammation, fibrosis, adhesions and ovarian cysts, which result in chronic pelvic pain, painful menses and infertility. The cause of endometriosis remains elusive, although environmental, immunological and genetic factors have been implicated. The limited treatments available for endometriosis are not curative. A definitive diagnosis of endometriosis requires surgery, since there are no specific and sensitive diagnostic tests for this disease.
During the past three years, our laboratory has been studying the molecular and genetic aspects of endometriosis in Puerto Rico, with the specific purpose of filling an important gap in the knowledge of this disease in the Hispanic population. Preliminary studies in our laboratory have shown that previously reported genetic associations to endometriosis do not hold true in our population. These findings highlight the importance of carrying out association studies in different populations, since genetic variations and their involvement in disease susceptibility are likely to vary across ethnic backgrounds. Also, we have observed that genetic associations differ in patients with and without a family of endometriosis. Finally, we have identified several candidate genes and genomic regions with a potential as susceptibility loci for endometriosis using DNA microarrays, subtractive hybridization and genetic linkage studies.
We hypothesize that genetic variations in candidate genes are associated with susceptibility to endometriosis. Also, we hypothesize that genetic associations to disease differ in patients with familial versus sporadic endometriosis. The main goal of the present proposal, therefore, is to elucidate the mechanisms involved in the genetic susceptibility for endometriosis in a Puerto Rican population and to determine if those mechanisms vary according to family history status. Identification of such variations is of critical importance to better understand the etiology of endometriosis, to design specific non-invasive test and, ultimately, to develop a cure for this incapacitating condition.