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Single nucleotide polymorphisms (SNPs) in the growth differentiation factor (GDF)‑9 gene are associated with premature ovarian failure, insufficient ovarian stimulation and a poor in vitro fertilization (IVF) score in women with diminished ovarian reserve. The aim of the present study was to assess the effect of C447T (rs254286) and G546A (rs10491279) SNPs on ovary stimulation response, oocyte quality, fertilization rate and outcome of clinical pregnancy in an infertile population of Polish females (n=86) treated with IVF. The present study also included a group of fertile women (n=202). The P‑trend value, calculated for the GDF‑9 C447T transition in infertile women, was statistically significant and were equal to 0.0195. A significant association of the GDF‑9 C447T SNP was observed with infertility for the C/C vs. T/T + C/T model (OR= 2.140; 95% CI=1.043‑4.393; P=0.0349). The GDF‑9 G546A SNP was significantly associated with the G/A vs. G/G model with poor ovarian stimulation (OR=9.303; 95% CI=2.568‑33.745; P=0.0008) and poor fertilization rate (OR=2.981; 95% CI=1.033‑8.607; P=0.0385). For the GDF‑9 C447T SNP, a significant association was observed between the C/C + C/T vs. T/T model and a poor ovarian stimulation response (OR=15.309; 95% CI=0.875‑267.83; P=0.0078), and a poor fertilization rate (OR=4.842; 95% CI=1.310‑17.901; P=0.0121). The present genetic evaluation revealed associations between IVF outcomes and the GDF‑9 A546G and C447T SNPs. Additionally, these results indicated that the GDF‑9 C447T SNP is a possible candidate genetic risk factor for female infertility in the Polish population.

Effect of growth differentiation factor-9 C447T and G546A polymorphisms on the outcomes of in vitro fertilization