title: COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency.
abstract: BACKGROUND
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil.
authors.forename: Emerson Barchi
authors.initials: EB
authors.lastname: Cordts
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil.
authors.forename: Monise Castro
authors.initials: MC
authors.lastname: Santos
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Peluso
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil.
authors.forename: Erika Azuma
authors.initials: EA
authors.lastname: Kayaki
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil ; Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, Santo André/SP CEP: 09060-650, Brasil.
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil.
authors.forename: Caio Parente
authors.initials: CP
authors.lastname: Barbosa
authors.affiliation: Center of Human Reproduction and Genetics - Faculdade de Medicina do ABC, Santo André/SP CEP 09060-650, Brazil.
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
mesh_terms: D000328:Adult; D001938:Brazil; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007246:Infertility; D008875:Middle Aged; D006080:Ovarian Follicle / Q000201:enzymology* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
chemical_list: C588010:COMT protein, human; D002394:Catechol O-Methyltransferase
keywords: COMT; Estrogen metabolism; Infertility; POI; Polymorphism