19 research outputs found
Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men
This study was performed to examine the contribution of genetic
polymorphism of oestrogen and androgen receptor (AR) genes in male
infertility. We have studied in total 173 Greek men, 109 infertile
patients and 64 controls (group A). Patients were divided in to three
subgroups: group B (n =29) with idiopathic moderate oligospermia, group
C (n =42) with azoospermia or idiopathic severe oligospermia and group D
(n =38) with azoospermia or oligospermia of various known aetiologies.
All patients and controls were genotyped for two polymorphisms of the
oestrogen receptor alpha (ERalpha) gene and also for the (CAG)n repeat
length polymorphism of the X-linked androgen receptor (AR)gene. The
control group had statistically significant difference from group C
regarding the XbaI polymorphism of ERalpha gene. Despite the fact that
we did not observe any statistically significant differences in the mean
and range of the CAG repeat number, the frequency of the higher repeats
of the nucleotide repeat sequence (CAG)n of the AR gene was 2-4 times
higher in groups B and C compared with the control group A. Our results
indicate that both ERalpha and AR gene play significant role in male
fertility. It is possible that a synergy may exist between unfavourable
genotypes of these two genes in male infertility
Persistent Hyperinsulinemic Hypoglycemia of Infancy: Long-Term Outcome Following Subtotal Pancreatectomy
Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility
Purpose Association of ESR1 gene PvuII, XbaI and (TA)n
microsatellite polymorphisms and woman infertility was
evaluated.
Methods Infertile(n=104) and fertile(n=107) women were
included in this study. We performed polymerase chain
reaction-restriction fragment-length polymorphism analysis
for detecting ESR1 polymorphisms.
Result(s) PvuII and XbaI polymorphisms confered risk for
infertility in a simple dominant manner in which a
significant relationship was observed between infertile and
control women. Infertile women had fewer(<18) short
repeat alleles in promotor region. ESR1 genotypes were
compared concerning maturation, fertilization, pregnancy
rates and embryo quality. Although no difference was found in
terms of pregnancy rates, maturation and fertilization rates
were significantly smaller in pp and xx genotypes. Also, pp
genotypes had significantly lower number of good quality
embryos. Long TA repeat in promotor was found to be
associated with low fertilization rate.
Conclusion(s) Polymorphisms at the ESR1 gene are associated
with infertility in this Turkish infertile women
population