Endometriosis is a poorly understood gynecologic condition defined as the presence of endometrial tissue at ectopic sites. This condition is characterized by severe pelvic pain, dyspareunia, dysmenorrhea, and infertility. Endometriosis continues to incapacitate and affect the well being, productivity, and lifestyle of millions of women, whilst imposing a challenge to medical doctors and researchers alike. The cause of endometriosis remains elusive, although environmental, immunological and genetic factors have been implicated. The limited treatments available are not curative, and definitive diagnosis requires surgery, since there are no specific diagnostic tests for this disease. We have been studying the molecular and genetic aspects of endometriosis in Puerto Rico, with the purpose of filling an important gap in the knowledge of this disease in general, and also as its applies to the Hispanic population in particular. 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 used DNA microarrays, subtractive hybridization and genetic linkage analysis to identify candidate genes/genomic regions which potentially represent susceptibility loci for endometriosis. We hypothesize that genetic variations in candidate genes are associated with susceptibility to endometriosis. Also, we hypothesize that genetic associations 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 to 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 diagnostic tests and, ultimately, to develop a cure for this incapacitating condition. Due to important links between endometriosis and infertility, pregnancy loss and ectopic pregnancy, the information uncovered by these studies will greatly impact the field of reproductive science, a target issue addressed in the Healthy People 2010 report (9-12).

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD050559-05
Application #
7799115
Study Section
Integrative and Clinical Endocrinology and Reproduction Study Section (ICER)
Program Officer
Taymans, Susan
Project Start
2006-04-24
Project End
2012-03-31
Budget Start
2010-04-01
Budget End
2012-03-31
Support Year
5
Fiscal Year
2010
Total Cost
$366,451
Indirect Cost
Name
Ponce School of Medicine
Department
Microbiology/Immun/Virology
Type
Schools of Medicine
DUNS #
105742043
City
Ponce
State
PR
Country
United States
Zip Code
00732
Ruiz, A; Rockfield, S; Taran, N et al. (2016) Effect of hydroxychloroquine and characterization of autophagy in a mouse model of endometriosis. Cell Death Dis 7:e2059
Colón-Caraballo, Mariano; Monteiro, Janice B; Flores, Idhaliz (2015) H3K27me3 is an Epigenetic Mark of Relevance in Endometriosis. Reprod Sci 22:1134-42
Ruiz, Lynnette A; Báez-Vega, Perla M; Ruiz, Abigail et al. (2015) Dysregulation of Lysyl Oxidase Expression in Lesions and Endometrium of Women With Endometriosis. Reprod Sci 22:1496-508
Fourquet, Jessica; Sinaii, Ninet; Stratton, Pamela et al. (2015) Characteristics of women with endometriosis from the USA and Puerto Rico. J Endometr Pelvic Pain Disord 7:129-135
Quiñones, Maria; Urrutia, Rebecca; Torres-Reverón, Annelyn et al. (2015) Anxiety, coping skills and hypothalamus-pituitary-adrenal (HPA) axis in patients with endometriosis. J Reprod Biol Health 3:
Monteiro, Janice B; Colón-Díaz, Maricarmen; García, Miosotis et al. (2014) Endometriosis is characterized by a distinct pattern of histone 3 and histone 4 lysine modifications. Reprod Sci 21:305-18
Colón-Díaz, Maricarmen; Báez-Vega, Perla; García, Miosotis et al. (2012) HDAC1 and HDAC2 are differentially expressed in endometriosis. Reprod Sci 19:483-92
Cuevas, Marielly; Flores, Idhaliz; Thompson, Kenira J et al. (2012) Stress exacerbates endometriosis manifestations and inflammatory parameters in an animal model. Reprod Sci 19:851-62
Collazo, Madeline S; Porrata-Doria, Tirtsa; Flores, Idhaliz et al. (2012) Apolipoprotein E polymorphisms and spontaneous pregnancy loss in patients with endometriosis. Mol Hum Reprod 18:372-7
Ruiz, Lynnette A; Dutil, Julie; Ruiz, Abigail et al. (2011) Single-nucleotide polymorphisms in the lysyl oxidase-like protein 4 and complement component 3 genes are associated with increased risk for endometriosis and endometriosis-associated infertility. Fertil Steril 96:512-5

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