Genetic markers GDF9 and BMP15 in predicting pregnancy achievement after IVF

Introduction. The GDF9 (growth differentiation factor 9) and BMP15 (bone morphogenetic protein 15) genes encode oocyte‑specific growth factors that play a pivotal role in folliculogenesis and embryonic development. Polymorphic variants of these genes may be associated with the outcomes of assisted reproductive technologies.

Aim: to evaluate a potential association between polymorphic variants of the GDF9 and BMP15 genes and clinical efficacy of in vitro fertilization (IVF) programs in patients with anovulation-related infertility.

Materials and Methods. A prospective study examining 96 women with anovulatory infertility (mean age 30.5 ± 2.5 years) was carried out. Genotyping was performed as part of a genome‑wide study using Infinium Global Screening Array‑24 v3.0 chips (USA) on an iScan system (Illumina) according to the Infinium HTS Assay Guide. Six single nucleotide polymorphisms (SNPs) were analyzed: rs254286 and rs10491279 (GDF9); rs3810682, rs3897937, rs41308602, and rs58995369 (BMP15).

Results. Statistically significant associations were found between BMP15 polymorphic variants rs3810682, rs3897937, and rs58995369 and IVF outcomes. The heterozygous C/G genotype of rs3810682 was associated with reduced odds of IVF success (odds ratio (OR) = 0.212; 95 % confidence interval (CI) = 0.071–0.636; p = 0.003). Similar patterns were observed for the C/T genotype of rs58995369 (OR = 0.212; 95 % CI = 0.071–0.636; p = 0.004). For the rs3897937 polymorphism, the homozygous A/A genotype was associated with a markedly increased likelihood of pregnancy (OR = 7.000; 95 % CI = 2.703–18.129; p < 0.001), whereas the heterozygous A/G genotype was associated with decreased odds (OR = 0.083; 95 % CI = 0.028–0.247; p < 0.001). No statistically significant associations with IVF outcomes were detected for GDF9 polymorphisms (rs254286, rs10491279).

Conclusion. Polymorphic variants of the BMP15 gene (rs3810682, rs3897937, rs58995369) are associated with IVF outcomes in patients with anovulatory infertility and may serve as potential predictors of IVF success.

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