Involvement of single nucleotide polymorphisms in ovarian poor response

Area of Science:

• Reproductive Medicine
• Genetics
• Infertility

Background:

• Controlled ovarian hyperstimulation (COH) unpredictability in oocyte yield is a significant challenge in infertility treatment.
• Genetic factors may influence individual responses to COH by altering immunological profiles.

Purpose of the Study:

• To investigate the association between genetic variations in AMHR2, LHCGR, MTHFR, PGR, and SERPINE1 genes and ovarian response to gonadotropin stimulation in infertile women undergoing COH.

Main Methods:

• Collected blood samples from infertile women categorized into good ovarian response (GOR) and poor ovarian response (POR) groups.
• Extracted genomic DNA and genotyped specific gene variations using TaqMan SNP Genotyping Assays and real-time PCR.

Main Results:

• Allele distributions showed a higher prevalence of minor alleles in AMHR2, LHCGR, MTHFR, and SERPINE1 genes among POR patients compared to GOR patients.
• Polymorphic genotypes with minor alleles were more frequent in POR patients for AMHR2, LHCGR, MTHFR, and SERPINE1.
• Multivariate analysis revealed a correlation between FSH levels and SERPINE1 polymorphic genotypes in predicting poor response, although gene variations themselves were not directly associated with poor response.

Conclusions:

• While variations in AMHR2, LHCGR, MTHFR, and SERPINE1 genes were more prevalent in women with poor ovarian response, they do not appear to be directly causative.
• Further research is needed to fully elucidate the complex genetic underpinnings of ovarian response variability in COH.