[Follicle-stimulating hormone receptor polymorphism and ovarian function].
The FSH receptor presents several polymorphisms. Two of them, located at codon 307 and 680, are the most frequent. Threonine can be substituted by alanine at position 307 and serine can be substituted by asparagine at position 680. The two most frequent allelic combinations are Thr(307) -Asn (680) (60%) and Ala(307) -Ser (680) (40%). As the allelic variants at codon 307 and 680 are almost invariably associated, most of the studies assessed only one codon (680) and classified the women as homozygous (Ser/Ser ou Asn/Asn) or heterozygous (Asn/Ser). Several studies aimed to correlate the follicle-stimulating hormone receptor polymorphism and ovarian function. Women homozygous for the Ser (680) variant have higher follicular FSH levels and longer follicular phase length, which suggest a lower sensitivity to FSH. The FSH receptor genotype would also influence the sensitivity to exogenous FSH: as regards ovarian stimulation, higher recombinant FSH doses are needed for Ser/Ser homozygous women. The analysis of polymorphism in women with premature ovarian failure did not show a link with any particular allelic variant. In women with polycystic ovaries, the distribution of the allelic variants greatly varies from one study to another.
Théron-Gérard
L
L
Service de Médecine de la Reproduction, Hôpital Jean-Verdier, Université Paris-XIII, avenue du 14-Juillet, 93140 Bondy, France. fredlucieg@free.fr
Pasquier
M
M
Czernichow
C
C
Cédrin-Durnerin
I
I
Hugues
J-N
JN
D003062:Codon; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism / Q000502:physiology*; D005787:Gene Frequency; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D010053:Ovary / Q000502:physiology*; D011085:Polycystic Ovary Syndrome / Q000235:genetics; D011110:Polymorphism, Genetic; D011962:Receptors, FSH / Q000235:genetics*; D012694:Serine; D013912:Threonine
D003062:Codon; D011962:Receptors, FSH; D013912:Threonine; D012694:Serine; D005640:Follicle Stimulating Hormone