An Investigation of Genetics in Ovulatory Dysfunction Related Infertility

The purpose of this dissertation research was to identify biomarkers associated with ovulatory dysfunction-related infertility and to assess if the disruption of known functions of these biomarkers are reflected in the outcomes of patients undergoing infertility treatment due to ovulatory dysfunction. Three separate research projects were performed to investigate the dissertation research aim, each with different study designs: a comparative analysis derived from real-world clinical data, a scoping review, and a genome-wide association study with a case-control study design. Genetic testing is not routinely used in the diagnostic setting of infertility at this time; thus, these research efforts were curated to increase genetic knowledge of patients with ovulatory dysfunction-related infertility with the intention of aiding in the development of diagnostic technology. This dissertation research successfully delivered several tools for advancements in this area, including a comprehensive list of ovulatory dysfunction-related infertility genes and four novel SNPs associated with anovulatory infertility.