Gene Polymorphism in Enzyme Cytochrome P450 17A1 (CYP17A) & Oestrogen Receptor Alpha, Beta in Women with Uterine Leiomyoma

Aim: To investigate the relationship between the CYP17A, ER alpha, and ER beta genes' Single Nucleotide Polymorphisms (SNPs) rs743572, rs3020449, and rs4986938 in women with uterine leiomyomas who are attending a Tertiary Care Hospital in North India.

Introduction: An increasing illness, uterine leiomyoma, affects people of Asian Indian descent. Since the pathophysiology is poorly understood, surgical intervention is frequently used since non-surgical therapy has a poor prognosis. The underlying genetic causes of hormonal imbalance have seldom been investigated among Indian women with uterine leiomyoma.

Materials and Techniques: One hundred patients with uterine leiomyoma were chosen at random from the gynecology outpatient department (OPD) of a tertiary care hospital in North India, with the requirement that they had no close blood relatives who have the disease. The controls were 100 healthy women who were of equal age. Blood was taken so that DNA could be extracted and RFLP-based polymorphisms could be found. Oestrogen Receptor beta (ER beta), CYP17, and ER alpha (ER alpha) bands were seen in Agarose gel. Graph Pad Prism 6.0 was used to conduct the statistical analysis. Using the Chi-square goodness of fit test, the Hardy-Weinberg equilibrium was examined. Using the Fisher exact test, nominal variables were analyzed. A (p-value of 0.05) was deemed significant for the data, which are shown as MeanSEM.

Results: Known risk factors for uterine fibroids, such as early menarche age (cases vs control 11.510.19-year versus 12.040.12, p=0.03) and fewer prior pregnancies (cases vs control 1.060.09 vs 1.410.12, p=0.01), were verified in this study. The genotype distribution of all subjects studied in above genes followed Hardy Weinberger equilibrium and there was no significant difference in genotype frequencies between cases and controls [ER alpha rs9322331 C allele (cases vs controls; 62% vs 64%), T allele (38%vs36%); ER beta rs4986938 G allele (64% vs 59%), A allele (36% vs 41%); CYP17 rs743572 T allele (44.95% vs 46.53%), C allele (55.05% vs 53.47%) p-value not significant in any]. The TC genotype of CYP17 rs743572, however, was more predisposed to obesity (p< 0.05).

Conclusion: Allele frequencies for each of the three SNPs were comparable in cases and controls, showing that they had no impact on a person's susceptibility to illness. The relationship between the TC allele of the CYP17 SNP and greater BMI, however, requires more research.