title: Pharmacogenetics of follicle-stimulating hormone action.
abstract: OBJECTIVE
  To review the current knowledge of genetic variants in the two genes affecting the individual responsiveness to follicle-stimulating hormone (FSH) action-the FSH beta-subunit (FSHB) and the FSH receptor (FSHR), as well as the pharmacogenetic ramifications of the findings.
  
  
  RESULTS
  Four common variants in the FSHB and the FSHR genes were shown to exhibit significant effect on FSH action: linked FSHR variants Thr307Ala and Asn680Ser determining common receptor isoforms, and gene expression affecting polymorphisms FSHR -29G/A and FSHB -211G/T. In women, the FSHR Thr307Ala/Asn680Ser polymorphisms show consistent predictive value for estimating the most optimal recombinant FSH dosage in controlled ovarian hyperstimulation (COH). The same variants exhibit a potential for the pharmacogenetic assessment of the treatment of polycystic ovarian syndrome. The FSHR -29G/A variant was also shown to contribute to ovarian response to COH. Pilot studies have suggested the FSHB -211 TT homozygous oligozoospermic men with genetically determined low concentration of FSH, as potentially the best responders to FSH treatment; furthermore, modulation of this response by FSHR polymorphisms is possible.
  
  
  CONCLUSIONS
  Genetic variants in FSHB and FSHR exhibit a potential for pharmacogenetic applications in selecting appropriate treatment options (timing and dosage) in male and female conditions requiring or benefiting from FSH therapy.
authors.affiliation: Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. maris.laan@ut.ee
authors.forename: Maris
authors.initials: M
authors.lastname: Laan
authors.forename: Marina
authors.initials: M
authors.lastname: Grigorova
authors.forename: Ilpo T
authors.initials: IT
authors.lastname: Huhtaniemi
mesh_terms: D005260:Female; D005640:Follicle Stimulating Hormone / Q000235:genetics* / Q000494:pharmacology; D037201:Follicle Stimulating Hormone, beta Subunit; D006801:Humans; D008297:Male; D016471:Ovarian Hyperstimulation Syndrome / Q000188:drug therapy / Q000235:genetics*; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011237:Predictive Value of Tests; D011401:Promoter Regions, Genetic; D011962:Receptors, FSH / Q000187:drug effects / Q000235:genetics*
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit; D011962:Receptors, FSH; D005640:Follicle Stimulating Hormone