The CC-allele of the PvuII polymorphic variant in intron 1 of the α-estrogen receptor gene is significantly more prevalent among infertile women at risk of premature ovarian aging

Genetic associations with diminished ovarian reserve: a systematic review of the literature

“…The four studies [37][38][39][40] were conducted in different ethnic populations, which may explain the discrepancy in results. Ethnic differences in this allele frequency, or other polymorphisms dependent on ethnicity that interact with the PvuII variant of ESR1, might explain the different effects of the variant on the diagnosis of DOR.…”

“…Gene polymorphisms associated with DOR are discussed in Table 1. [38] Growth differentiation factor 9 (GDF9) GDF9 is an oocyte-derived factor that is essential for folliculogenesis, granulosa cell proliferation, and cumulus expansion [25,34,7]. It is a member of the transforming growth factor-beta superfamily.…”

“…M'Rabet et al [38] examined these polymorphisms in a large group of predominantly white American infertile women (n=348), and compared them to those with POI (n=48), while using fertile women (n=200) as controls. The SNPs were identified and amplified by PCR.…”

“…The different definitions used may have also affected the results. Therefore, it is important to note that the first study [38] used the standard definition of DOR, whereas the second study [39] used an ovarian dysfunction group that was more similar to the POI phenotype. It appears that, at least within certain populations, the PvuII variant of ESR1 is associated with DOR.…”

COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency

“…Alterations in these genes can be associated with the development of POI [5]. A recently demonstrated example of that is that mutations in estrogen receptors can affect regulatory pathways and have been reported to be positively associated with the development of POI [6-8]. …”