None of the authors has any conflict of interest to disclose.
EBC participated in patients’ evaluation and selection and study design; MS, CP and EAK participated in samples preparation, molecular genetics studies and statistical analysis; BB and CPB participated in manuscript design and DMC participated in the conception of the idea, supervision of the research and manuscript design. All authors read and approved the final manuscript.
Estrogens 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.
In 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.
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. However, further studies in larger populations are necessary to confirm these findings.
Santoro N: Mechanisms of premature ovarian insufficiency. Ann Endocrinol 2003, 64: 87–92.
Coulam CB, Adamson SC, Annegers JF: Incidence of premature ovarian failure. Obstet Gynecol 1986, 67(4):604–606. PubMed
Welt CK: Primary ovarian insufficiency: a more accurate term for premature ovarian insufficiency. Clin Endocrinol (Oxf) 2008, 68: 499–509. 10.1111/j.1365-2265.2007.03073.x CrossRef
Cordts EB, Santos AA, Peluso C, Bianco B, Barbosa CP, Christofolini DM: Risk of premature ovarian failure is associated to the PvuII polymorphism at estrogen receptor gene ESR1. J Assist Reprod Genet 2012. [Epub ahead of print]
Liu L, Tan R, Cui Y, Liu J, Wu J: Estrogen receptor α gene (ESR1) polymorphisms associated with idiopathic premature ovarian failure in Chinese women. Gynecol Endocrinol 2012. [Epub ahead of print]
M’Rabet N, Moffat R, Helbling S, Kaech A, Zhang H, de Geyter C: 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. Fertil Steril 2012, 98(4):965–972. e1–5 10.1016/j.fertnstert.2012.05.048 CrossRefPubMed
Lachman HM, Papolos DF, Saito T, Yu YM, Szumlanski CL, Weinshilboum RM: Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996, 6(3):243–250. 10.1097/00008571-199606000-00007 CrossRefPubMed
Zhu BT, Conney AH: Is 2-methoxyestradiol an endogenous estrogen metabolite that inhibits mammary carcinogenesis? Cancer Res 1998, 58: 2269–2277. PubMed
Martimbeau S, Tilly JL: Physiological cell death in endocrine-dependent tissues: an ovarian perspective. Clin Endocrinol (Oxf) 1997, 46: 241–254. 10.1046/j.1365-2265.1997.00157.x CrossRef
- COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency
Emerson Barchi Cordts
Monise Castro Santos
Erika Azuma Kayaki
Caio Parente Barbosa
Denise Maria Christofolini
- BioMed Central
Neu im Fachgebiet Gynäkologie und Geburtshilfe
Meistgelesene Bücher aus dem Fachgebiet
e.Med Kampagnen-Visual, Mail Icon II