A Review on CYP11A1, CYP17A1, and CYP19A1 Polymorphism Studies: Candidate Susceptibility Genes for Polycystic Ovary Syndrome (PCOS) and Infertility

Abstract

Polycystic ovary syndrome is a multifactorial condition associated with reproductive and endocrine organs and might cause infertility and metabolic abnormalities in childbearing age. PCOS seems to be a multifactorial disorder resulting from the combination of several genetic and environmental factors. Little research has been conducted to date on the impact of polymorphisms in infertility. We aim to review the appearance of polymorphisms in females of diverse ethnicities and their effect on infertility in the population with polycystic ovary syndrome. There have been numerous reports of the importance of the steroidogenesis pathway and genetic variants in PCOS pathogenesis. The most important genes that play a role in the aetiology of PCOS are CYP11A1, CYP17A1, and CYP19A1. We evaluated the occurrence of polymorphisms in various ethnicities in the CYP11A1, CYP17A1, and CYP19A1 genes and their efficacy on increasing PCOS risk with infertility. Our findings revealed that polymorphisms in various ethnicities are associated with the risk of PCOS with infertility. Although conflicting results regarding CYP11A1, CYP17A1, and CYP19A1 polymorphisms and their influence on PCOS with infertility have been reported in a small number of papers, the authors feel this may be attributable to the sample size and ethnic composition of the examined populations. In conclusion, our study strongly suggests that the CYP11A1, CYP17A1, and CYP19A1 genes might significantly enhance the probability of developing PCOS with infertility.

Correlation Between Increasing DNA Copy Numbers That Encode Cortisol Biosynthesis Enzymes and Myocardial Infarction Patients

“…A study of 31 found a link between increased glucose resistance, lipid levels, and weight gain and a change in CYP17A1 gene. Additionally, 25 found a link between increased morning cortisol and an increased risk of CVD.…”

When Electrospun Fiber Support Matters: In Vitro Ovine Long-Term Folliculogenesis on Poly (Epsilon Caprolactone) (PCL)-Patterned Fibers

“…In light of this, the determination of the steroidogenic potential of follicles cultured in vitro with the tested different culture approaches was performed by assessing the transcriptional activation program of the CYP17A1 and CYP19A1 genes, key step points in steroid biosynthesis. Considering the physiological aspect, granulosa cells act cooperatively with theca cells in estrogen synthesis, as well as the synthesis of steroid hormones and the maturation of oocytes promote the maintenance of female reproductive performances [ 97 , 98 ]. Based on the obtained findings, the expression of steroidogenic enzymes physiologically increases during the transition from PA to EA follicles (see Figure 8 ), denoting a similar trend in follicles cultured on PCL-Patterned scaffolds that developed an antrum cavity compared to other approaches.…”

Effect of Heat Stress on Egg Production, Steroid Hormone Synthesis, and Related Gene Expression in Chicken Preovulatory Follicular Granulosa Cells

“…Our results indicated that heat stress decreased FSHR and CYP19A1 gene expression in GCs. As is well known, FSH, FSHR, and CYP19A1 are intimately connected to estradiol production in GCs [ 35 ]. Heat stress also inhibits estrogen synthesis in duck GCs through the reduction of CYP19A1 expression [ 22 ].…”