Single Nucleotide Polymorphism (SNP) on the CDKN2B gene and its association with intracranial aneurysms

Abstract Background Ruptured Intracranial aneurysm (IAs) continues to be a disease with high mortality and morbidity. The same disease, when detected in an unruptured state carries a significantly lower burden of mortality. Screening programs directed at high-risk populations for identification and treatment of IA in an unruptured state can potentially mitigate this high morbidity and mortality. One apparent risk factor is genetic aberration. Objectives The present study aims to identify single-nucleotide polymorphisms (SNPs) at the rs1333040 locus on the CDKN2B-AS1/ANRIL gene in patients with IAs. Methods A case-control study involving 35 patients with IAs and 35 controls was conducted. SNP analysis of the rs1333040 locus in the CDKN2B-AS1/ANRIL gene on chromosome 9p21.3 was performed using real-time PCR. Bioinformatics tools were employed to study gene interactions. Results Mutations at the rs1333040 locus were identified in 9 out of 35 IA cases, while this mutation was observed in only one patient out of 35 in the control group ( p = 0.006, OR = 11.769). Interactome revealed that the CDKN2B-AS1/ANRIL gene interacts with numerous RNA molecules and proteins involved in multiple processes, including extracellular matrix and vascular remodelling, cell proliferation, inflammation, and senescence. Conclusion This study identifies a significant association between the rs1333040 SNP in the CDKN2B-AS1/ANRIL gene and IAs in an Indian cohort. The presence of this SNP may help identify high-risk populations for IA, thereby directing efforts for early identification and treatment of an unruptured IA. A major limitation of study was small sample size.