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Genetic variants in estrogen signaling pathways. Edition No. 1

VDM Publishing House, June 2009, Pages: 232


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Estrogen has a number of important beneficial effects
in the cardiovascular system. We hypothesized that
genetic variants in the estrogen receptor alpha
(ERalpha) gene may cause variable sensitivity to the
hormone and influence an individual’s risk of
cardiovascular disease, along with other
estrogen-sensitive phenotypes. This work explores the
role of ERalpha in the mediation of the
atheroprotective effects of estrogen and identifies
regulatory regions in the ERalpha gene important in
cardiovascular tissue. It identifies novel genetic
variants in these regions and examines their effect
on expression of the receptor in vitro, and their
association with estrogen sensitive phenotypes in
different study populations. The identification of
genetic variations associated with altered estrogen
response is of potential public health importance.
Insights may be gained into the pathogenesis of
cardiovascular as well as other estrogen sensitive
diseases contributing to the development and
application of newer therapies for these disorders.



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