title: FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women.
abstract: OBJECTIVE
  Herein we analyzed FSH-R polymorphism at position 307 aiming (a) to assess the prevalence of the three allelic variants (Ala307Ala, Ala307Thr and Thr307Thr) in relation to the type of ovary and (b) to clarify if the allelic variant could influence the responsiveness to exogenous FSH.
  
  
  METHODS
  We prospectively studied a group of 106 Italian women undergoing in vitro fertilization (IVF), among which 40 were subjects with polycystic ovary syndrome (PCOS) and 66 were normo-ovulatory women with a normal ovarian morphology at transvaginal ultrasound. DNA extraction, denaturing high-performance liquid chromatography (dHPLC) and DNA sequencing were used to detect the FSH-R 307 polymorphic genotype and the whole exon 10 was analyzed.
  
  
  RESULTS
  The heterozygote variant Ala307Thr was significantly more frequent than the homozygote variants in women with PCOS, whereas in normo-ovulatory women with normal ovary the three allelic variants had a comparable prevalence. Women bearing the Ala307Thr variant showed a higher ovarian responsiveness to exogenous FSH than normo-ovulatory subjects.
  
  
  CONCLUSIONS
  The heterozygote FSH-R polymorphism Ala307Thr is significantly more frequent in women with PCOS than in normo-ovulatory subjects and is more frequently associated with a higher ovarian responsiveness to exogenous FSH.
authors.affiliation: Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Dolfin
authors.forename: Benedetta
authors.initials: B
authors.lastname: Guani
authors.forename: Cristina
authors.initials: C
authors.lastname: Lussiana
authors.forename: Caterina
authors.initials: C
authors.lastname: Mari
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Alberto
authors.initials: A
authors.lastname: Revelli
mesh_terms: D005260:Female; D005307:Fertilization in Vitro; D005640:Follicle Stimulating Hormone / Q000494:pharmacology*; D006801:Humans; D007558:Italy; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D011962:Receptors, FSH / Q000235:genetics*
chemical_list: D011962:Receptors, FSH; D005640:Follicle Stimulating Hormone