Follicle‑stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population

Abstract

Association between phenotype and follicle-stimulating hormone (FSH) receptor and FSH beta chain genotype was evaluated in women with ovarian dysfunction. FSH receptor gene single nucleotide polymorphisms (SNPs) were analyzed by restricted fragment length polymorphism (RFLP) technique. Three groups were analyzed: two groups formed of poor responders (women with ovarian dysfunctions caused by endometriosis and patients who underwent ovarian stimulation protocols) and a third good responders group (normal-ovulatory women who gave birth to naturally conceived children). A higher average level of basal FSH values were found in mutants in the A919G/Ala307Thr/rs6165 or A2039G/Asn680Ser/rs6166 tests (7.16±1.09; P=0.659). Anti-mullerian hormone (AMH) below 1.2 ng/ml was associated with a higher frequency of mutations: 33.3% A919G/Ala307Thr and A2039G/Asn680Ser (P=0.137) and also in 66.6% FSH receptor less frequent polymorphism (c.-29G>A) rs 1394205 (P=0.522). The age, day 3 FSH, and AMH levels are widely used to investigate female infertility. However, we have not yet found the ideal biomarker to determine the best outcome and treatment plan for our patients. We cconsider that genetic markers will become the future in the personalization of controlled ovarian stimulation treatment in the upcoming period.

Genetic determination of the ovarian reserve: a literature review

“…They are found in genes coding the receptors of the Anti-Müllerian hormone – AMH (AMHR2), Follicle-stimulating hormone – FSH (FSHR), luteinizing hormone – LH (LHCGR), estrogen (ESR), growth and differentiation factors ( GDF9 ). They are also found in genes that are responsible for bone morphogenetic proteins – BMPs (gene TR53 ) [ 20 , 21 ]. SNPs have been shown to play an important role in poor ovarian response (POR) and DOR development (Fig.…”

“…SNPs of FSH receptor are considered to be potential diagnostic genetic markers of POR [ 21 ], as FSH plays an crucial role in the formation of ovarian follicles, since after binding to the receptor, this hormone triggers many signaling reactions and other activating molecular mechanisms in cells. It is therefore regarded as a key marker of ovarian reserve status.…”