What question did this study set out to answer?

This research aims to investigate the relationship between the NPY promoter variant rs16147 and the susceptibility to polycystic ovary syndrome.

March 13, 2026Open Access

Neuropeptide Y Promoter Variant rs16147 (-399 T/C) Is Associated With Susceptibility to Polycystic Ovary Syndrome

Key Points

This research aims to investigate the relationship between the NPY promoter variant rs16147 and the susceptibility to polycystic ovary syndrome.
Case-control design with 102 women diagnosed with PCOS and 102 healthy controls.
Genomic DNA extracted from blood samples for genotyping using PCR-RFLP analysis.
Evaluation of demographic, anthropometric, hormonal, and metabolic parameters.
Significant differences in genotype and allele distributions between PCOS and control groups.
CT genotype found in 82.4% of PCOS women vs. 23.5% in controls (OR = 15.1).
T allele more prevalent in PCOS women (41.2%) than in controls (11.8%) (OR = 5.25).
No significant associations between rs16147 genotypes and hormonal or metabolic parameters within the PCOS group.

Abstract

Background Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder with complex genetic and neuroendocrine underpinnings. Neuropeptide Y (NPY), a key regulator of energy balance and reproductive function, has been implicated in hypothalamic-pituitary-ovarian (HPO) axis dysregulation. However, data on variants of the NPY gene in PCOS remain limited. This study investigated the association between the NPY promoter variant rs16147 (-399 T/C) and susceptibility to PCOS. Methods In this case-control study, 102 women diagnosed with PCOS according to the Rotterdam criteria and 102 age-matched healthy controls were enrolled. Genomic DNA was extracted from peripheral blood samples, and genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Demographic and anthropometric characteristics were recorded, and hormonal and metabolic parameters, including luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, thyroid-stimulating hormone (TSH), total testosterone, fasting glucose, insulin levels, lipid profile components, and homeostasis model assessment of insulin resistance (HOMA-IR), were evaluated. Genotype-phenotype associations were also explored. Results Genotype and allele distributions differed significantly between groups. The CT genotype was detected in 84 women with PCOS (82. 4%) compared to 24 controls (23. 5%) and was associated with increased susceptibility to PCOS (odds ratio OR = 15. 1; 95% confidence interval CI: 7. 65-30. 0; p < 0. 001). In contrast, the CC genotype was more frequent in controls (78, 76. 5%) than in the PCOS group (18, 17. 6%). The TT genotype was not observed in either group. Similarly, the T allele was more prevalent in women with PCOS (84, 41. 2%) than in controls (24, 11. 8%) (OR = 5. 25; 95% CI: 3. 15-8. 73; p < 0. 001). No significant associations were observed between rs16147 genotypes and hormonal or metabolic parameters within the PCOS cohort. Conclusions The NPY promoter variant rs16147, particularly the CT genotype and T allele, may contribute to genetic susceptibility to PCOS rather than to clinical phenotype severity. However, these findings should be interpreted with caution and require validation in larger, multicenter populations.

Mark Helpful

Bookmark

Relay

View Full Paper