Genetic Association of Growth Hormone-Releasing Hormone (GHRH) Polymorphisms 95A>T Novel SNP with Acromegaly Incidence

Abstract

Background: Acromegaly is an endocrine disorder commonly associated with excessive growth hormone secretion from a pituitary adenoma. The present study examined the distribution of the GHRH 95A>T polymorphism among individuals with acromegaly and healthy controls and assessed its relationship with circulating GHRH concentrations. Methods: The study included 80 whole-blood samples from patients with acromegaly and 40 samples from healthy controls. Patient samples were collected at the National Center for Diabetes, Al-Mustansiriyah University, between January and March 2025. GHRH concentrations were measured using an enzyme-linked immunosorbent assay. A region of the GHRH gene was amplified using conventional polymerase chain reaction, followed by sequence analysis. Results: The AT genotype was observed in 54 of 80 patients (67.5%) and 10 of 40 controls (25.0%), whereas the AA genotype occurred in 26 patients (32.5%) and 30 controls (75.0%). No TT genotype was identified. The T-allele frequency was 33.75% in patients and 12.5% in controls, with an odds ratio of 3.57 (95% confidence interval: 1.7028–7.4682). Mean serum GHRH concentrations were higher in AT than AA patients (201.4 ± 38.3 versus 141.8 ± 19.2 pg/mL), but the difference was not statistically significant (p = 0.124). Conclusion: The 95A>T variant was associated with acromegaly status in the study population. These findings do not establish causality and require independent confirmation.