title: Toward a pharmacogenetic approach to male infertility: polymorphism of follicle-stimulating hormone beta-subunit promoter.
abstract: OBJECTIVE
  To verify in another population (Italians) whether a single-nucleotide polymorphism in the FSHB gene promoter previously associated with serum FSH levels in Estonians is indeed associated with sperm count and FSH plasma levels, and especially to verify whether it could be a pharmacogenetic tool for the treatment of male infertility with FSH.
  
  
  METHODS
  Cross-sectional and prospective study.
  
  
  METHODS
  Infertility center at a university hospital.
  
  
  METHODS
  Five hundred fourteen subjects with nonobstructive azoospermia and oligozoospermia and 248 subjects with normozoospermia.
  
  
  METHODS
  None.
  
  
  METHODS
  Semen parameters, reproductive hormone levels, and FSHB -211 G/T polymorphism (rs10835638).
  
  
  RESULTS
  FSHB -211 TT genotype was associated with significantly lower FSH levels (mean ± SD: 3.3 ± 2.5 IU/L vs. 9.1 ± 8.9 IU/L in GG homozygotes). TT homozygotes were seen in 25% of subjects with azoo-oligozoospermia and low FSH levels (≤1.5 IU/L). We did not observe this genotype in men with high FSH levels (>8 IU/L) or in men with normozoospermia. Treatment with FSH induced a significantly higher improvement in sperm count and quality in TT homozygotes regarding carriers of the G allele.
  
  
  CONCLUSIONS
  FSHB -211 TT genotype might represent a novel treatable form of male infertility characterized by severe spermatogenic impairment and low or inappropriately normal FSH plasma levels. This genetic marker could represent a valid pharmacogenetic approach for identification of potential responders to FSH treatment.
authors: Section of Clinical Pathology and Center for Human Reproduction Pathology, Department of Histology, Microbiology, and Medical Biotechnologies, University of Padova, Padova, Italy.
authors: Alberto
authors: A
authors: Ferlin
authors: Cinzia
authors: C
authors: Vinanzi
authors: Riccardo
authors: R
authors: Selice
authors: Andrea
authors: A
authors: Garolla
authors: Anna Chiara
authors: AC
authors: Frigo
authors: Carlo
authors: C
authors: Foresta
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D037201:Follicle Stimulating Hormone, beta Subunit / Q000235:genetics* / Q000627:therapeutic use; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D010597:Pharmacogenetics / Q000379:methods / Q000639:trends*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011401:Promoter Regions, Genetic / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics; D011994:Recombinant Proteins / Q000627:therapeutic use; D055101:Semen Analysis; D016896:Treatment Outcome; D054928:Validation Studies as Topic
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit; D021122:Protein Subunits; D011994:Recombinant Proteins