Abstract
BackgroundEstrogens are important factors in the female reproductive functions and are processed by a number of enzymes along their metabolic pathway. The COMT gene constitutes a crucial element in estrogen metabolism and is assumed to be involved in the development of Premature Ovarian Insufficiency (POI). This study aimed to determine whether the presence of the COMT Val/Met polymorphism (rs4680) is associated to the risk of developing POI.FindingsIn this case–control study, we evaluated 96 infertile women with POI and 120 fertile women as controls, after obtaining a detailed history of the disease and follicle-stimulating hormone measurements, besides karyotype determination and fragile-X premutation syndrome investigation. COMT (Val/Met) genotypes were identified by real time PCR (genotyping TaqMan assay), and the results were statistically analyzed. A statistically significant difference was found in the distribution of COMT genotypes (p = 0.003) and alleles (p = 0.015) between the POI patients and the control group.ConclusionWe were able to demonstrate a strong association between the COMT Val/Met polymorphism and the risk of premature ovarian insufficiency in the Brazilian women evaluated. However, further studies in larger populations are necessary to confirm these findings.
Highlights
Estrogens are important factors in the female reproductive functions and are processed by a number of enzymes along their metabolic pathway
We were able to demonstrate a strong association between the COMT Val/Met polymorphism and the risk of premature ovarian insufficiency in the Brazilian women evaluated
A scientifically more accurate term for the disorder is “primary ovarian insufficiency” (POI), which can be appropriately modified to describe the state of the ovarian function [4]
Summary
Estrogens are important factors in the female reproductive functions and are processed by a number of enzymes along their metabolic pathway. POF is classically defined as a process in which the gradual decline of ovarian function results in failure of folliculogenesis before the age of 40 years, elevated FSH and low estradiol levels [1,2,3]. This definition does not take into account the longitudinal progression towards the final menstrual cycle. Several genes have been identified as being expressed in the ovary and are postulated to play a role in ovarian physiology and in maintaining normal homeostasis in the ovarian cycle 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 [6,7,8]
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