Progesterone
receptor gene alleles linked with endometriosis risk
Women who carry the
progesterone receptor (PR) gene allele +331A appear
to have a reduced risk for deep infiltrating endometriosis
compared with other women
K van Kaam and team from the University
of Maastricht set out to determine the frequencies of
progesterone receptor gene polymorphisms in women with
deep infiltrating endometriosis because alterations
in the progesterone receptor (PR) are considered a risk
factor for the development of endometriosis.
The teamexamined the prevalence of
the PR gene polymorphism +331G/A in women with deep
infiltrating endometriosis (n = 72), adenomyosis in
the uterine wall (n = 40), gynecological patients without
symptomatic endometriosis (n = 102), and in healthy
females (n = 93).
Results revealed that there was a significantly lower
allelic frequency of the polymorphic allele +331A in
women with endometriosis and in those with adenomyosis
than in healthy females.
Furthermore, the expression levels of the PR-B isoform
in enometriotic epithelium were significantly higher
in women who carried the +331A allele (n=2) than in
those who carried the +331G/G variant (n=61).
The researchers note, however, that as there were only
two individuals with the +331A allele, it may not be
possible to draw any definitive conclusions on the effect
of this allele on the expression levels of PR-A and
PR-B.
Van Kaam et al conclude that "the presence
of the PR gene polymorphic allele +331A is associated
with a reduced risk of deep infiltrating endometriosis
and adenomyosis compared with healthy population controls.
The PROGINS polymorphism does not seem to modify the
risk of deep infiltrating endometriosis."
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