Effect of the FSH receptor polymorphism on the age at menarche

Summary: Estrogen and estrogen receptor (ER) genes have an effect on the age at menarche. Follicle stimulating hormone (FSH) is an important hormone that plays a major role in the regulation of folliculogenesis and estrogen synthesis. The aim of this study was to investigate the influence of the FSH receptor (FSHR) polymorphisms Asn680Ser and Thr307Ala on age at menarche. Materials and Methods: FSH receptor gene polymorphisms were investigated in women who were admitted to Selcuk University between May 2013 and November 2014. Information about age at menarche was obtained through interviews. Polymorphic analysis of the FSH receptor gene was performed in 209 healthy female patients who had undergone an annual health examination. Genomic DNA was obtained from peripheral blood leukocytes, and polymorphisms were investigated using restriction fragment length polymorphism analysis. Results: The mean age at menarche was 12.95 ± 1.62 years. The overall frequencies for Asn680Ser variants NN, NS, and SS were 40.2%, 36.4%, and 23.4%, respectively, whereas Thr307Ala variants TT, TA, and AA were 34.4%, 41.1%, and 24.4%, respectively. Menarche occurred 3.6 months earlier in subjects with TN homozygote genotype than in AS homozygotes, and the mean age at menarche was 2.5 months earlier in TN homozygotes compared with that in all other study subjects, but the differences were not statistically significant (p = 0.966 and p = 0.986, respectively). Conclusions: The Ala307Thr and Ser680Asn polymorphisms of the FSHR gene are not associated with age at menarche.