ECE2013 Poster Presentations Female reproduction (47 abstracts)
The combination of genetic variants in the FSHR and FSHB genes affect serum FSH in women of reproductive age
Valeria Moriondo 1 , Antonio La Marca 2 , Enrico Papaleo 3 , Carlo Alviggi 4 , Gianni Ruvolo 5 , De Placido Giuseppe 4 , Massimo Candiani 3 , Ettore Cittadini 5 , Francesca De Michele 3 , Valeria Catellani 1 , Annibale Volpe 2 & Manuela Simoni 1
1Unit and Chair of Endocrinology and Metabolism, Department of Biomedicine, Metabolism and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; 2Mother–Infant Department, University of Modena and Reggio Emilia, Modena, Italy; 3Centro Natalità, Mother–Infant Department, Vita-Salute University, Milan, Italy; 4Department of Obstetrics, Gynecology, Urology and Reproductive Medicine, Federico II University of Naples, Naples, Italy; 5Reproductive Medicine Center, University of Palermo, Palermo, Italy.
Introduction: The relationship between SNPs of the FSHR gene and serum FSH has not been completely clarified. Genetic variants of the FSHB gene have been associated to variation in gene transcription and to serum FSH levels in men. An interesting joint effect of both FSHB −211G>T and FSHR 2039 A>G on male reproductive parameters has been recently observed. No data have been published on the effect of the FSHB −211G>T in combination with the FSHR 2039 A>G in women.
Description of methods: To investigate the effect of FSHB −211G>T together with the FSHR 2039 A>G on serum FSH in women we conducted a prospective study including 193 healthy eumenorrhoic women of reproductive age. In all women, early follicular phase FSH and AMH were measured by commercial assays and antral follicle count was measured by transvaginal ultrasound. Genomic DNA was purified from total peripheral blood and genotyping for the two SNPs was performed by HRM technique.
Results: No significant gradients of increasing or decreasing day 3 FSH across the FSHR 2039 (AA/AG/GG) and FSHB −211 (GG/GT/TT) genotypes, respectively, were observed. When women were stratified according to the FSHR 2039 and the FSHB −211 genotypes a statistically significant reduction of day 3 FSH was shown in the group of women with the FSHB −211 GT+TT/FSHR2039 AA genotype compared to the FSHB −211 GG/FSHR2039 GG genotype.
Conclusion: The reduction of day 3 FSH evidenced in the group of women with the FSHB −211 GT+TT/FSHR2039 AA genotype confirms a possible additive effect of the different SNPs in FSHR and FSHB on regulating serum FSH in women.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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