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FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women

  • Gonadal Disease and Physiology
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Abstract

Objective

Herein we analyzed FSH-R polymorphism at position 307 aiming (a) to assess the prevalence of the three allelic variants (Ala307Ala, Ala307Thr and Thr307Thr) in relation to the type of ovary and (b) to clarify if the allelic variant could influence the responsiveness to exogenous FSH.

Study design

We prospectively studied a group of 106 Italian women undergoing in vitro fertilization (IVF), among which 40 were subjects with polycystic ovary syndrome (PCOS) and 66 were normo-ovulatory women with a normal ovarian morphology at transvaginal ultrasound. DNA extraction, denaturing high-performance liquid chromatography (dHPLC) and DNA sequencing were used to detect the FSH-R 307 polymorphic genotype and the whole exon 10 was analyzed.

Results

The heterozygote variant Ala307Thr was significantly more frequent than the homozygote variants in women with PCOS, whereas in normo-ovulatory women with normal ovary the three allelic variants had a comparable prevalence. Women bearing the Ala307Thr variant showed a higher ovarian responsiveness to exogenous FSH than normo-ovulatory subjects.

Conclusions

The heterozygote FSH-R polymorphism Ala307Thr is significantly more frequent in women with PCOS than in normo-ovulatory subjects and is more frequently associated with a higher ovarian responsiveness to exogenous FSH.

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Authors and Affiliations

  1. Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy

    Elisabetta Dolfin, Benedetta Guani, Cristina Lussiana & Alberto Revelli

  2. Molecular Biology Laboratory, OIRM-S. Anna Hospital, Torino, Italy

    Caterina Mari & Gabriella Restagno

Authors
  1. Elisabetta Dolfin
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  2. Benedetta Guani
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  3. Cristina Lussiana
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  4. Caterina Mari
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  5. Gabriella Restagno
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  6. Alberto Revelli
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Corresponding author

Correspondence to Alberto Revelli.

Additional information

Capsule FSH-receptor Ala307Thr polymorphism is associated to PCOS and to high responsiveness to exogenous FSH.

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Dolfin, E., Guani, B., Lussiana, C. et al. FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. J Assist Reprod Genet 28, 925–930 (2011). https://doi.org/10.1007/s10815-011-9619-4

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  • DOI: https://doi.org/10.1007/s10815-011-9619-4

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