"Association Of The Rs4889 KISS1 Gene Variant With Hormonal Dysregulation In Polycystic Ovary Syndrome Patients"

Abstract

Introduction: Polycystic Ovary Syndrome (PCOS) is a prevalent endocrine disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The KISS1 gene, which encodes the kisspeptin protein, has been implicated in the regulation of the hypothalamic-pituitary-gonadal (HPG) axis and may play a role in PCOS pathophysiology. This study investigates the association between the rs4889 KISS1 gene variant and hormonal profiles, specifically focusing on kisspeptin, thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, triiodothyronine (T3), and thyroxine (T4) levels in PCOS patients compared to healthy controls.

Methods: Case-control study of 298 women (149 PCOS, 149 controls). Genotyping and hormone level measurements (kisspeptin, TSH, LH, FSH, testosterone, T3, T4) were performed.

Results: PCOS patients exhibited significantly higher levels of kisspeptin (14.5 ± 3.1:9.8 ± 2.4), TSH (4.8 ± 1.2:3.2 ± 1.0), LH (13.2 ± 4.5:7.5 ± 2.6) and testosterone (76.5 ± 15.2:42.3 ± 10.8) compared to the control group (p < 0.05). Conversely, FSH (5.1 ± 1.3:7.6 ± 1.8), T3(90.5 ± 15.4:98.2 ± 14.6), and T4 (6.8 ± 1.2:7.4 ± 1.3) levels were significantly lower in the PCOS group (p < 0.05). The rs4889 variant of the KISS1 gene was found to be significantly associated with these altered hormonal profiles in PCOS patients

Conclusion: The rs4889 KISS1 gene variant is linked to hormonal changes in PCOS patients, including Increased kisspeptin, TSH, LH, and testosterone, and Decreased FSH, T3, and T4. This variant may contribute to PCOS pathophysiology by altering the hormonal balance. Further research is needed to explore the underlying mechanisms and potential biomarker applications.