Association of P73, BMP15, and GDF9 gene polymorphisms with diminished ovarian reserve

Introduction: Diminished ovarian reserve (DOR) is a condition in which the quantity or quality of oocytes results in impaired fertility. The prevalence of DOR in infertile women is estimated to be around 10%. Our aim was to investigate the polymorphisms rs3810682, rs10491279, and rs4648551 in association with the genes BMP15, GDF9, and p73 in patients with DOR and control samples. Methods: Genomic DNA was isolated from 5 cc of peripheral blood from 300 participants (150 patients with DOR and 150 women without a history of DOR). After ARMS-PCR assay and sequencing of a series of samples to confirm results, data were analyzed using GraphPad Prism software. Results: A significant difference was found between the frequencies of the different polymorphisms associated with the BMP15 gene (P value = 0.002). However, for the polymorphisms of the GDF9 and p73 genes, no significant difference was found between the frequencies of these polymorphisms in the control and patient groups. Conclusion: Determining the frequency of gene variants in case and control groups helps in understanding the potential risk factors for the development of DOR. Understanding these factors is very important in different populations that naturally have different lifestyles, especially in a country like Iran, where a large number of pregnancies occur at older ages due to the use of contraceptives. Determining risk factors can help women decide when to become pregnant. Finally, further validation is needed to obtain more information on the use of the polymorphisms investigated in this study as an indicator of DOR in Iranian populations.