caa a22 4500 445817445 CHVBK 20180317145233.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10815-011-9619-4 doi (NATIONALLICENCE)springer-10.1007/s10815-011-9619-4 FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women [Elektronische Daten] [Elisabetta Dolfin, Benedetta Guani, Cristina Lussiana, Caterina Mari, Gabriella Restagno, Alberto Revelli] 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. Springer Science+Business Media, LLC, 2011 Follicle-stimulating hormone nationallicence Follicle-stimulating hormone receptor nationallicence Follicle-stimulating hormone receptor polymorphism nationallicence Polycystic ovary syndrome nationallicence In vitro fertilization nationallicence Dolfin Elisabetta Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut Guani Benedetta Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut Lussiana Cristina Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut Mari Caterina Molecular Biology Laboratory, OIRM-S. Anna Hospital, Torino, Italy aut Restagno Gabriella Molecular Biology Laboratory, OIRM-S. Anna Hospital, Torino, Italy aut Revelli Alberto Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/10(2011-09-01), 925-930 1058-0468 28:10<925 2011 28 10815 https://doi.org/10.1007/s10815-011-9619-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-011-9619-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dolfin Elisabetta Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut NATIONALLICENCE 700 1- Guani Benedetta Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut NATIONALLICENCE 700 1- Lussiana Cristina Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut NATIONALLICENCE 700 1- Mari Caterina Molecular Biology Laboratory, OIRM-S. Anna Hospital, Torino, Italy aut NATIONALLICENCE 700 1- Restagno Gabriella Molecular Biology Laboratory, OIRM-S. Anna Hospital, Torino, Italy aut NATIONALLICENCE 700 1- Revelli Alberto Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/10(2011-09-01), 925-930 1058-0468 28:10<925 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer