LncRNA ANRIL Polymorphisms Association with Pituitary Adenomas Hormonal Activity

Pituitary adenomas (PAs) are common non-metastatic tumours that develop in the pituitary gland. PA can be divided into hormonally active, secreting excess hormones, and inactive forms, non-functioning. Although the exact mechanisms of PA development remain unclear, genetic factors, including single-nucleotide polymorphisms (SNPs), are thought to play a significant role in its development. Certain SNPs may increase the risk of developing PA, while others may have a protective effect. However, although several studies have examined genetic variants associated with PA, the influence of specific SNPs such as lncRNA ANRIL rs1333045 and rs1537373 has not yet been investigated. We aimed to determine associations between lncRNA ANRIL (rs1333045, rs1537373) polymorphisms and PA hormonal activity. The study involved 404 subjects: 180 patients with PA and 224 healthy subjects. SNPs were determined by real-time polymerase chain reaction (RT-PCR). The Akaike Information Criterion (AIC) was used for optimal model selection. Statistical data analysis was performed using the IBM SPSS Statistics 29.0.2.0 program. The lncRNA ANRIL rs1333045 and rs1537373 T allele is statistically significantly more frequent in the group of patients with active PA compared to healthy individuals (p=0.005 and p=0.033, respectively). We found that, according to the AIC, each T allele of rs1333045 was associated with 1.5-fold increased odds of developing active PA under the additive model (p=0.010). Also, we determined that each G allele of the rs1537373 SNP decreases the odds of active PA occurrence by 1.4-fold under the additive model (p=0.049). Additionally, analysis revealed that the rs1537373 GT genotype, compared with the TT and GG genotypes, was associated with a 1.8-fold increased likelihood of developing inactive PA under the overdominant model (p=0.029). LncRNA ANRIL rs1333045 T allele suggests a potential risk of developing hormonal functioning PA, whereas the rs1537373 G allele may suggest a potential protective effect. The lncRNA ANRIL rs1537373 GT genotype may contribute to a higher likelihood of developing non-functioning PA.