Genetic Association of Growth Hormone-Releasing Hormone (GHRH) Polymorphisms 95A>T Novel SNP with Acromegaly Incidence
Thualfiqar Ghalib Turki *
Department of Laboratory Techniques, Faculty of Medical Technologies, Islamic University of Najaf, Najaf, Iraq.
Muna Sadeq Hameed
Department of Laboratory Techniques, Faculty of Medical Technologies, Islamic University of Najaf, Najaf, Iraq.
Noor Kasim Haider
Department of Laboratory Techniques, Faculty of Medical Technologies, Islamic University of Najaf, Najaf, Iraq.
Tamara Kareem Mohsen
Department of Laboratory Techniques, Faculty of Medical Technologies, Islamic University of Najaf, Najaf, Iraq.
Zainab Naeem Awadh
Department of Laboratory Techniques, Faculty of Medical Technologies, Islamic University of Najaf, Najaf, Iraq.
Dhafer Rahman Abed Al-janabi
Department of Laboratory Techniques, Faculty of Medical Technologies, Islamic University of Najaf, Najaf, Iraq.
Mustafa Abdullah Azeez
Department of Medical Biotechnology, Al-Qassim Green University, Al Qasim, Iraq.
*Author to whom correspondence should be addressed.
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.
Keywords: Acromegaly, growth hormone-releasing hormone, GHRH gene, 95A>T polymorphism, single-nucleotide polymorphism, genotype frequency, genotype frequencycase–control study, serum GHRH, genetic association, endocrine diseases