Aromatase Gene Polymorphisms at the Rs10046 Position and Their Relationship to Certain Biochemical Variables in Women with Polycystic Ovary Syndrome
Zohair A. M. Al-Jubouri
Abstract
The aim of this study is to investigate the relationship between single nucleotide polymorphisms (SNPs) at the rs10046 locus in the aromatase gene CYP19A1 and certain biochemical variables, and their connection to the occurrence of polycystic ovary syndrome (PCOS). Ninety (90) samples, aged 16-45 years, were collected for this study between November 1, 2022, and March 1, 2023. The samples were divided into two groups: 60 patients and 30 healthy individuals. Samples were collected from gynecology clinics at Tikrit Teaching Hospital and outpatient gynecology clinics. The results showed a significant increase in LH concentrations in patients compared to healthy individuals across all genotypes. The highest mean LH concentration was 18.97 in patients with the GG genotype, while the lowest mean LH concentration was 6.57 in healthy individuals with the GL genotype, While no significant differences were observed between the genotypes in the healthy group, as all were within the normal range for LH, a high standard deviation was noted in the GL and GG genotypes among the patients. This indicates a significant variation in the severity of hormonal imbalance between cases, which is common in polycystic ovary syndrome (PCOS) due to varying degrees of hypothalamic hyperactivity in the brain. The results also suggest that the presence of the G allele in the GL and GG genotypes may be associated with increased activity of the hormonal pathways regulating LH secretion or with increased ovarian sensitivity to it. The LH/FSH ratio showed a gradual increase from the AA genotype (2.51 ± 2.93) to the GA genotype (3.33 ± 2.81) and then to the GG genotype (3.90 ± 4.94): AA → GA → GG. In contrast, the control group showed proportions within physiological limits, with mean values of 0.91 ± 0.35, 1.18 ± 0.50, and 1.49 ± 0.46 for AA, GA, and GG genotypes respectively. These results support the multifactorial nature of polycystic ovary syndrome, which includes both genetic predisposition and hormonal changes.