Skip to main content
Erschienen in: Journal of Assisted Reproduction and Genetics 1/2009

01.01.2009 | GENETICS

A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine

verfasst von: Ganna Livshyts, Svetlana Podlesnaja, Sergey Kravchenko, Iryna Sudoma, Ludmila Livshits

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 1/2009

Einloggen, um Zugang zu erhalten

Abstract

Purpose

To evaluate the association between phenotype and follicle stimulating hormone receptor (FSHR) genotype in women with ovarian dysfunction and patients with “poor response” to gonadotropin stimulation of ovulation.

Methods

FSHR gene SNPs were analyzed by PCR and RFLP. “Poor responders” (ovarian dysfunction) group and “good responders” group constituted the study group. Normo-ovulatory women who gave birth to naturally conceived children formed control groups: under 35 years of age (control I) and over 35 years of age (control II).

Results

The frequency of Ala307-Ser680/Ala307-Ser680 genotype was significantly more prevalent in the ovarian dysfunction group (26%) compared to the control I (7.7%) (P < 0.001) and a “good responders” group (12.5%) (P < 0.05); and in a “poor responders” group (33.3%) compared to a “good responders” group (P < 0.05), control I (P < 0.001) and control II (17.5%) (P < 0.05).

Conclusions

Our data shows the prevalence of the Ala307-Ser680/ Ala307-Ser680 genotype in the both groups of patients. The finding should have impact on the delineation of stimulation protocols.
Literatur
1.
Zurück zum Zitat Gharib SD, Wierman ME, Shupnik MA, Chin WW. Molecular biology of pituitary gonadotropins. Endocr Rev. 1990;11:177–99.PubMedCrossRef Gharib SD, Wierman ME, Shupnik MA, Chin WW. Molecular biology of pituitary gonadotropins. Endocr Rev. 1990;11:177–99.PubMedCrossRef
2.
Zurück zum Zitat Moyle WR, Campbell RK. Gonadotropins. In: Adashi EY, Rock JA, Rosenwalks Z, editors. Reproductive Endocrinology, Surgery and Technology. Philadelphia: Lippincott-Raven; 1996. p. 683–724. Moyle WR, Campbell RK. Gonadotropins. In: Adashi EY, Rock JA, Rosenwalks Z, editors. Reproductive Endocrinology, Surgery and Technology. Philadelphia: Lippincott-Raven; 1996. p. 683–724.
5.
Zurück zum Zitat Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:959–68. doi:10.1016/0092-8674(95)90275-9.PubMedCrossRef Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:959–68. doi:10.​1016/​0092-8674(95)90275-9.PubMedCrossRef
6.
Zurück zum Zitat Jiang M, Aittomaiki K, Nilsson C, Pakarinen P, Iitia A, Torresani T, et al. 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;83:4338–43. doi:10.1210/jc.83.12.4338.PubMedCrossRef Jiang M, Aittomaiki K, Nilsson C, Pakarinen P, Iitia A, Torresani T, et al. 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;83:4338–43. doi:10.​1210/​jc.​83.​12.​4338.PubMedCrossRef
7.
Zurück zum Zitat Simoni M, Gromoll J, Höppner W, Kamischke A, Krafft T, Stahle D, et al. 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;84:751–5. doi:10.1210/jc.84.2.751.PubMedCrossRef Simoni M, Gromoll J, Höppner W, Kamischke A, Krafft T, Stahle D, et al. 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;84:751–5. doi:10.​1210/​jc.​84.​2.​751.PubMedCrossRef
8.
Zurück zum Zitat Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, et al. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest. 1998;102:1352–9. doi:10.1172/JCI3795.PubMedCrossRef Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, et al. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest. 1998;102:1352–9. doi:10.​1172/​JCI3795.PubMedCrossRef
9.
Zurück zum Zitat Gemzell C. Induction of ovulation in infertile women with pituitary tumors. Am J Obstet Gynecol. 1975;121:311–5.PubMed Gemzell C. Induction of ovulation in infertile women with pituitary tumors. Am J Obstet Gynecol. 1975;121:311–5.PubMed
10.
Zurück zum Zitat Edwards RG. The history of assisted human conception with especial reference to endocrinology. Exp Clin Endocrinol Diabetes. 1996;104:183–204.PubMedCrossRef Edwards RG. The history of assisted human conception with especial reference to endocrinology. Exp Clin Endocrinol Diabetes. 1996;104:183–204.PubMedCrossRef
12.
Zurück zum Zitat Pellicer A, Ardiles G, Neuspiller F, Remohi J, Simon C, Bonilla-Musoles F. Evaluation of the ovarian reserve in young low responders with normal basal FSH levels using 3-D ultrasound. Fertil Steril. 1998;70:671–5. doi:10.1016/S0015-0282(98)00268-4.PubMedCrossRef Pellicer A, Ardiles G, Neuspiller F, Remohi J, Simon C, Bonilla-Musoles F. Evaluation of the ovarian reserve in young low responders with normal basal FSH levels using 3-D ultrasound. Fertil Steril. 1998;70:671–5. doi:10.​1016/​S0015-0282(98)00268-4.PubMedCrossRef
14.
Zurück zum Zitat Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual/T. Maniatis EF. Fritsch J. Sambrook. Cold Spring Harbor Laboratory; 1982. 545. Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual/T. Maniatis EF. Fritsch J. Sambrook. Cold Spring Harbor Laboratory; 1982. 545.
16.
Zurück zum Zitat 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;80:986–99. doi:10.1016/S0015-0282(03)01115-4.PubMedCrossRef 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;80:986–99. doi:10.​1016/​S0015-0282(03)01115-4.PubMedCrossRef
17.
Zurück zum Zitat Raymond M, Rousset F. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Hered. 1995;86:248–9. Raymond M, Rousset F. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Hered. 1995;86:248–9.
18.
Zurück zum Zitat Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online. 2005;1:47–50.PubMed Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online. 2005;1:47–50.PubMed
19.
Zurück zum Zitat Livshyts GB, Podlesnaja SS, Kravchenko SA, Livshits LA. Distribution of FSHR307 and FSHR680 allelic variants of FSH receptor gene exon 10 in females from Ukraine. Biopolymers Cell. 2008;24:318–22. Livshyts GB, Podlesnaja SS, Kravchenko SA, Livshits LA. Distribution of FSHR307 and FSHR680 allelic variants of FSH receptor gene exon 10 in females from Ukraine. Biopolymers Cell. 2008;24:318–22.
20.
Zurück zum Zitat 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;23:177–84. doi:10.1007/s10815-005-9015-z.PubMedCrossRef 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;23:177–84. doi:10.​1007/​s10815-005-9015-z.PubMedCrossRef
21.
Zurück zum Zitat da Fonte Kohek MB, Batista MC, Russel 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;70:565–7. doi:10.1016/S0015-0282(98)00203-9.PubMedCrossRef da Fonte Kohek MB, Batista MC, Russel 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;70:565–7. doi:10.​1016/​S0015-0282(98)00203-9.PubMedCrossRef
22.
Zurück zum Zitat 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;70:326–31. doi:10.1016/S0015-0282(98)00151-4.PubMedCrossRef 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;70:326–31. doi:10.​1016/​S0015-0282(98)00151-4.PubMedCrossRef
23.
Zurück zum Zitat 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;51:97–9. doi:10.1046/j.1365-2265.1999.00745.x.CrossRef 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;51:97–9. doi:10.​1046/​j.​1365-2265.​1999.​00745.​x.CrossRef
24.
Zurück zum Zitat Tong Y, Liao WX, Roy AC, Ng SC. Absence of mutations in the coding regions of the follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome. Horm Metab Res. 2001;33:221–6. doi:10.1055/s-2001-14941.PubMedCrossRef Tong Y, Liao WX, Roy AC, Ng SC. Absence of mutations in the coding regions of the follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome. Horm Metab Res. 2001;33:221–6. doi:10.​1055/​s-2001-14941.PubMedCrossRef
25.
Zurück zum Zitat 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;85:3365–9. doi:10.1210/jc.85.9.3365.PubMedCrossRef 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;85:3365–9. doi:10.​1210/​jc.​85.​9.​3365.PubMedCrossRef
27.
Zurück zum Zitat Stephen F, Jaroslav S, Kate H. Follicle dynamics and anovulation in polycystic ovary syndrome. Hum Reprod. 2008;14:367–78. Stephen F, Jaroslav S, Kate H. Follicle dynamics and anovulation in polycystic ovary syndrome. Hum Reprod. 2008;14:367–78.
Metadaten
Titel
A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine
verfasst von
Ganna Livshyts
Svetlana Podlesnaja
Sergey Kravchenko
Iryna Sudoma
Ludmila Livshits
Publikationsdatum
01.01.2009
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 1/2009
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-008-9279-1

Weitere Artikel der Ausgabe 1/2009

Journal of Assisted Reproduction and Genetics 1/2009 Zur Ausgabe

Hirsutismus bei PCOS: Laser- und Lichttherapien helfen

26.04.2024 Hirsutismus Nachrichten

Laser- und Lichtbehandlungen können bei Frauen mit polyzystischem Ovarialsyndrom (PCOS) den übermäßigen Haarwuchs verringern und das Wohlbefinden verbessern – bei alleiniger Anwendung oder in Kombination mit Medikamenten.

ICI-Therapie in der Schwangerschaft wird gut toleriert

Müssen sich Schwangere einer Krebstherapie unterziehen, rufen Immuncheckpointinhibitoren offenbar nicht mehr unerwünschte Wirkungen hervor als andere Mittel gegen Krebs.

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bislang gibt es kein Medikament zur Prävention von Wochenbettdepressionen. Das Injektionsanästhetikum Esketamin könnte womöglich diese Lücke füllen.

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

22.04.2024 DGIM 2024 Kongressbericht

Durch die Häufung nach der COVID-19-Pandemie sind Infektionen mit dem Respiratorischen Synzytial-Virus (RSV) in den Fokus gerückt. Fachgesellschaften empfehlen eine Impfung inzwischen nicht nur für Säuglinge und Kleinkinder.

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.