Pharmacogenetic study of Asn680Ser and -29A>G in FSHR gene in Chinese women undergoing controlled ovarian hyperstimulation

Abstract The outcome of controlled ovarian hyperstimulation (COH) is various and unpredictable. According to previous studies, 2 single nucleotide polymorphisms, Asn680Ser and -29A/G, have a pharmacogenetic association with ovarian response to COH. However, studies on the Asn680Ser polymorphism have yielded inconsistent conclusions and only a few studies with small sample sizes have been performed on -29A/G. The association of these 2 polymorphisms with ovarian response remains unclear. The present study evaluated the association of Asn680Ser and -29A/G genotypes with COH. A total of 414 Chinese women undergoing in vitro fertilization-embryo transfer were included. Genotypes for these single nucleotide polymorphisms were identified by high-resolution melting-curve analysis. The value of exogenous follicle-stimulating hormone dosage per oocyte divided by the body surface area (Dosage/Oocyte × Surface) was calculated for each patient as an indicator of ovarian response. The results of statistical analyses showed no association between Asn680Ser genotype and ovarian response. As for -29A/G, heterozygote individuals had more oocytes retrieved (P = 0.034). Combinatorial analysis of these 2 single nucleotide polymorphisms showed that genotype A/G-Asn/Asn had lower basal-follicle-stimulating hormone and more oocytes retrieved. Analysis of genotype association with ovarian response also revealed this genotype had a significantly higher risk of developing hyper response (OR = 7.86; 95% CI: 1.31–9.43). To some extent, there were associations between the studied polymorphisms and ovarian response; however, the power of this link is weak and has limited value for clinical prediction.