title: The combination of genetic variants of the FSHB and FSHR genes affects serum FSH in women of reproductive age.
abstract: OBJECTIVE
  What is the effect of FSHB-211G>T together with the FSHR 2039 A>G on serum FSH in women?
  
  
  CONCLUSIONS
  Serum FSH levels are affected by the combination of genetic polymorphisms in FSHR and FSHB.
  
  
  BACKGROUND
  The relationship between SNPs of the FSHR gene and serum FSH has not been completely clarified. Genetic variants of the FSHB gene have been associated with variation in gene transcription and serum FSH levels in men. No data have been published on the effect of the FSHB-211G>T in women, alone or in combination with the FSHR 2039 A>G.
  
  
  METHODS
  This study was a prospective study including 193 healthy women of reproductive age.
  
  
  METHODS
  Infertile and otherwise healthy eumenorrheic women (n = 193) with normal BMI and serum FSH levels were recruited for the study. In all women early follicular phase FSH and AMH were measured by commercial assays, and antral follicle count was measured by transvaginal ultrasound. Genomic DNA was purified from total peripheral blood and genotyping for the two SNPs was performed.
  
  
  RESULTS
  No significant gradients of increasing or decreasing Day 3 FSH across the FSHR 2039 (AA/AG/GG) and FSHB-211 (GG/GT/TT) genotypes, respectively, were observed. When women were stratified according to the FSHR 2039, and FSHB-211 genotypes a statistically significant reduction of d3 FSH was shown in the group of women with the FSHB-211 GT + TT/FSHR2039 AA genotype compared with the FSHB-211 GG/FSHR2039 GG genotype, hence confirming a possible additive effect of the different SNPs in FSHR and FSHB on regulating serum FSH.
  
  
  CONCLUSIONS
  This finding requires an independent confirmation. However, it confirms the relationship between serum FSH and FSHB together with FSHR gene polymorphisms already reported in males.
  
  
  CONCLUSIONS
  The knowledge of the FSHB/FSHR genotype combination is fundamental for the proper interpretation of serum FSH levels in women of reproductive age.
  
  
  BACKGROUND
  Merck Serono supported the study in the form of a research grant for the laboratory session. None of the authors have any competing interest to declare.
authors.affiliation: Mother-Infant Department - Institute of Obstetrics and Gynecology, University of Modena and Reggio Emilia, Policlinico di Modena, Largo del Pozzo, Modena 41100, Italy. antlamarca@libero.it
authors.forename: A
authors.initials: A
authors.lastname: La Marca
authors.forename: E
authors.initials: E
authors.lastname: Papaleo
authors.forename: C
authors.initials: C
authors.lastname: Alviggi
authors.forename: G
authors.initials: G
authors.lastname: Ruvolo
authors.forename: G
authors.initials: G
authors.lastname: De Placido
authors.forename: M
authors.initials: M
authors.lastname: Candiani
authors.forename: E
authors.initials: E
authors.lastname: Cittadini
authors.forename: F
authors.initials: F
authors.lastname: De Michele
authors.forename: V
authors.initials: V
authors.lastname: Moriondo
authors.forename: V
authors.initials: V
authors.lastname: Catellani
authors.forename: A
authors.initials: A
authors.lastname: Volpe
authors.forename: M
authors.initials: M
authors.lastname: Simoni
mesh_terms: D000328:Adult; D000483:Alleles; D015992:Body Mass Index; D005091:Exons; D005260:Female; D037201:Follicle Stimulating Hormone, beta Subunit / Q000097:blood* / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D006080:Ovarian Follicle / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D017697:Premenopause; D011446:Prospective Studies; D011962:Receptors, FSH / Q000235:genetics*; D055815:Young Adult
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit; D011962:Receptors, FSH