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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).
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