Association Between IL1RAP Polymorphism and Pituitary Adenoma in the Lithuanian Population

Pituitary Adenoma (PA) is a commonly occurring benign tumor of the pituitary gland, often progressing slowly and initially without symptoms [1]. However, depending on the disease duration of the disease and the hormonal activity of the pituitary gland, various clinical signs may appear. Although the exact mechanisms of PA development are not fully understood, certain genetic mutations have been linked to tumor formation [2]. The IL1RAP gene encodes a protein found in the brain that acts as a co-receptor for IL-1 family cytokines, essential for regulating immune responses [3]. Altered cytokine levels can disrupt immune function and promote inflammation, with IL1RAP overexpression linked to tumor development and poorer survival outcomes [4]. The aim of this study was to investigate the association between the IL1RAP rs4624606 gene polymorphism and the occurrence of PA in the Lithuanian population. This study included a total of 445 participants, divided into two groups: patients with PA (n =148) and a control group (n = 297). DNA was extracted from peripheral blood leukocytes using the DNA-salting out method. Genotyping was carried out using the real-time polymerase chain reaction (RT-PCR) method. Data were analyzed using IBM SPSS Statistics 29.0 software. Our study demonstrated that the IL1RAP rs4624606 A allele was significantly less frequent among patients with non-functioning PA compared to the control group (p = 0.031). Furthermore, each A allele of IL1RAP rs4624606 reduces the odds of developing non-functioning PA form by 2.1-fold under the additive model (OR = 0.472; 95% CI: 0.360–0.957; p = 0.033). In conclusion, the IL1RAP rs4624606 A alleles are associated with a reduced likelihood of developing non-functioning pituitary adenomas.