title: Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis.
abstract: OBJECTIVE
  To investigate whether polymorphisms in genes involved in biosynthesis and signalling of sex steroids influence susceptibility to endometriosis and to infertility associated with it.
  
  
  METHODS
  Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphisms in oestrogen receptor genes ESR1 (rs2234693 - T/C single nucleotide polymorphism (SNP), dinucleotide (TA)(n) repeat) and ESR2 (dinucleotide (CA)(n) repeat), progesterone receptor gene PGR (rs10895068 - G/A SNP, 306-bp Alu-insertion), 17β-hydroxysteroid dehydrogenase type 1 gene HSD17B1 (rs605059 - A/G SNP), and aromatase gene CYP19A1 (rs10046 - C/T SNP, (TTTA)(n) tetranucleotide repeat, 3-bp TCT insertion/deletion polymorphism).
  
  
  RESULTS
  The HSD17B1 A/G SNP A allele increased overall endometriosis risk and the risk of stage I-II disease, while ESR1 longer (TA)(n) repeats only correlated with susceptibility to stage I-II endometriosis. When considering patients' fertility status, HSD17B1 A/G SNP A allele and ESR1 longer (TA)(n) repeats were associated with endometriosis accompanied by infertility, while ESR2 shorter (CA)(n) repeats were linked with endometriosis without infertility. Other polymorphisms were distributed similarly among patients and controls.
  
  
  CONCLUSIONS
  Genetic variants in ESR1, ESR2, and HSD17B1 genes could modify susceptibility to endometriosis and might influence the fertility status in endometriosis patients.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tartu, Tartu, Estonia. merit.lamp@ut.ee
authors.forename: Merit
authors.initials: M
authors.lastname: Lamp
authors.forename: Maire
authors.initials: M
authors.lastname: Peters
authors.forename: Eva
authors.initials: E
authors.lastname: Reinmaa
authors.forename: Kadri
authors.initials: K
authors.lastname: Haller-Kikkatalo
authors.forename: Tanel
authors.initials: T
authors.lastname: Kaart
authors.forename: Ulle
authors.initials: U
authors.lastname: Kadastik
authors.forename: Helle
authors.initials: H
authors.lastname: Karro
authors.forename: Andres
authors.initials: A
authors.lastname: Metspalu
authors.forename: Andres
authors.initials: A
authors.lastname: Salumets
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000150:complications / Q000235:genetics*; D004960:Estradiol Dehydrogenases / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005298:Fertility / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006304:Health Status; D006801:Humans; D007247:Infertility, Female / Q000150:complications / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000502:physiology; D014591:Uterine Diseases / Q000150:complications / Q000235:genetics*; D055815:Young Adult
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D004960:Estradiol Dehydrogenases; C513331:HSD17B1 protein, human