Biopolym. Cell. 2008; 24(4):318-322.
http://dx.doi.org/10.7124/bc.0007AF
Molecular Biomedicine
Distribution of FSHR307 and FSHR680 allelic variants of FSH receptor gene exon 10 in females from Ukraine
1Livshyts G. B., 1Podlesnaja S. S., 1Kravchenko S. A., 1Livshits L. A.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680

Abstract

The purpose of this study was to examine the distribution of two distinct follicle-stimulating hormone receptor (FSHR) variants, Asn680Ser and Thr307Ala, in normaly ovulated group of females from Ukraine. The FSHR gene variants, Asn680Ser and Thr307Ala, were analyzed by PCR and RFLP. The strong linkage disequilibrium between FSHR307 and FSHR680 loci was found (p < 0.0001). The following genotypes have been detected: NN (33.1 %), NS (52.3 %), SS (14.6 %) for Asn680Ser variant and TT (33.1 %), TA (55.4 %), AA (11.5 %) for Thr307Ala variant. Further study on the association of FSHR variant with ovarian dysfunction and individual susceptibility to FSH-stimulation considering our population data would clarify a possible functional role of FSHR307 and FSHR680 loci.
Keywords: FSH receptor gene, polymorphisms, population
Full text: (PDF, in English)

References

[1] Gharib SD, Wierman ME, Shupnik MA, Chin WW. Molecular biology of the pituitary gonadotropins. Endocr Rev. 1990;11(1):177-99.
[2] Moyle W. R., Campbell R. K. Gonadotropins Reproductive endocrinology, surgery and technology. Eds E. Y. Adashi, J. A. Rock, Z. Rosenwalks Lippincott-Raven, 1996 P. 683–724.
[3] Segaloff DL, Ascoli M. The lutropin/choriogonadotropin receptor ... 4 years later. Endocr Rev. 1993;14(3):324-47.
[4] Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18(6):739-73.
[5] Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82(6):959-68.
[6] Jiang M, Aittomaki K, Nilsson C, Pakarinen P, Iitia A, Torresani T, Simonsen H, Goh V, Pettersson K, de la Chapelle A, Huhtaniemi I. The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab. 1998;83(12):4338-43.
[7] Simoni M, Gromoll J, H?ppner W, Kamischke A, Krafft T, St?hle D, Nieschlag E. Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J Clin Endocrinol Metab. 1999;84(2):751-5.
[8] Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F, Misrahi M. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest. 1998;102(7):1352-9.
[9] Gromoll J, Simoni M, Nieschlag E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab. 1996;81(4):1367-70.
[10] Simoni JM. Keeping it up: maintaining adherence to antiviral therapies. Body Posit. 1998;11(4-5):20-3.
[11] Maniatis T., Fritsch E. F., Sambrook J. Molecular cloning: a laboratory manual New York: Cold Spring Harbor Lab. press, 1982 545 p.
[12] Laven JS, Mulders AG, Suryandari DA, Gromoll J, Nieschlag E, Fauser BC, Simoni M. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril. 2003;80(4):986-92.
[13] Sudo S, Kudo M, Wada S, Sato O, Hsueh AJ, Fujimoto S. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod. 2002;8(10):893-9.
[14] Raymond M., Rousset F. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J. Heredity. 1995; 86:248–249.
[15] Excoffier L, Laval G, Schneider S. Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online. 2007;1:47-50.
[16] Loutradis D, Patsoula E, Minas V, Koussidis GA, Antsaklis A, Michalas S, Makrigiannakis A. FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs. J Assist Reprod Genet. 2006;23(4):177-84.
[17] da Fonte Kohek MB, Batista MC, Russell AJ, Vass K, Giacaglia LR, Mendonca BB, Latronico AC. No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure. Fertil Steril. 1998;70(3):565-7.
[18] Liu JY, Gromoll J, Cedars MI, La Barbera AR. Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. Fertil Steril. 1998;70(2):326-31.
[19] Conway GS, Conway E, Walker C, Hoppner W, Gromoll J, Simoni M. Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. Clin Endocrinol (Oxf). 1999;51(1):97-9.
[20] Tong Y, Liao WX, Roy AC, Ng SC. Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome. Horm Metab Res. 2001;33(4):221-6.
[21] Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab. 2000;85(9):3365-9.