Investigation of biomarkers in Endometriosis-associated infertility: Systematic Review

Abstract

The relationship between endometriosis and infertility is still unknown, but it is possible that genetic polymorphisms influence these two variables. This study aims to identify, in the literature, which polymorphisms are related to infertility in women with endometriosis. A search was performed in databases using the descriptors: polymorphisms genetics and infertility and endometriosis. 386 articles were identified, and after applying the inclusion and exclusion criteria, 33 case-control studies were included. Genes and their respective polymorphisms, which exhibited statistically significant values, were classified into three categories: related to metabolic/cellular processes, steroidogenesis and sex hormone receptors, inflammation and immune response. In summary, the results of these studies suggest that the polymorphisms rs882605 of MUC4 gene, rs16826658 of WNT4 gene, rs10953316 of MUC17 gene, rs10928050 of KAZN gene, rs1799889 of PAI-1 gene, (TA)n repeats of ESR1 gene, (CA)n repeats of ESR2 gene, rs605059 of HSD17B1 gene, rs743572 of CYP17A1 gene, insLQ of LHR gene, p.Ile49Ser of AMH gene, rs12700667 of NPVF/NFE2L3 gene, G1502A of LHβ gene, G + 1730A of ERβ gene, rs7528684 of FCRL3 gene, rs3761549 of FOXP3 gene and rs28362491 of NFKβ1 gene are implicated in the etiology of infertility in women with endometriosis.

Ovarian Stimulation for In Vitro Fertilization and Reproductive Outcome after Surgical Treatment of Endometriosis Compared with Tubal Factor Infertility

“…Most studies and meta-analyses support the idea that endometriomas and especially ovarian surgery for endometriomas produce a decrease in ovarian reserve. A 2022 study reports a decrease in AMH levels from an average of 3.77 ng/mL preoperatively to 1.72 ng/mL at 12 months postoperatively [22][23][24][25]. This decrease in AMH levels has a crucial influence in choosing the appropriate ovarian stimulation protocol, type and dose of gonadotropin in order to maximize IVF success.…”

Targeting the formation of estrogens for treatment of hormone dependent diseases–current status

“…In addition, high expression of HSD17B1 is associated with deviated follicular fluid steroid levels in polycystic ovarian syndrome (Yu et al, 2021), foetal growth restriction (Zhu et al, 2018), chronic obstructive pulmonary disease (COPD; (Konings et al, 2017); and other disorders including lung cancer, skin and eye diseases (Konings et al, 2018a;Heinosalo et al, 2019). Additionally, genetic variants in the HSD17B1 gene are associated with amyotrophic lateral sclerosis (Boddy et al, 2022), endometriosis associated infertility (Egashira et al, 2022) and other disorders (Konings et al, 2018b). Animal studies as well point out that expression of HSD17B1 leads to endometrial hyperplasia (Saloniemi et al, 2010), endometrial cancer (Konings et al, 2018b;Xanthoulea et al, 2021), adenomyosis (Heinosalo et al, 2022), and mammary gland pathologies (Jarvensivu et al, 2018).…”