rs112859779 (TCF24): Intracranial Aneurysm Risk

Key takeaways

• rs112859779, a variant in the TCF24 gene, reached genome-wide significance for intracranial aneurysm risk in a Korean population study.
• It was one of only 8 out of 29 genome-wide-significant variants with statistical power of 0.8 or higher, indicating a more reliable association signal.
• The study used an Asian-specific genotyping array, so findings may be most relevant to Korean and East Asian populations.
• Evidence comes from a single small study (250 cases, 294 controls at one institution); replication in larger cohorts is needed.
• No specific odds ratio, lifestyle links, or drug interactions have been reported for this variant.

What the research says A genome-wide association study (GWAS) in a Korean population identified rs112859779, a single nucleotide polymorphism (SNP - a single-letter change in the DNA sequence) in or near the TCF24 gene, as one of 29 variants reaching genome-wide significance (p < 5 x 10^-8, a strict threshold used to filter false positives in genetic studies) for susceptibility to intracranial aneurysm (IA - a balloon-like bulge in a brain artery that can cause subarachnoid hemorrhage, a form of bleeding around the brain, if it ruptures). Among those 29 SNPs, only 8, including this locus, showed statistical power of 0.8 or greater, meaning the study had sufficient sample size to detect those associations reliably rather than by chance. The study enrolled 250 patients with saccular (rounded, sac-shaped) sporadic IAs and 294 controls from a single hospital in South Korea, using the Axiom Precision Medicine Research Array, a genotyping chip built for South and East Asian populations.

Reported associations

• Intracranial aneurysm susceptibility: This variant reached genome-wide significance (p < 5 x 10^-8) and had statistical power >= 0.8 in a Korean GWAS of 250 cases and 294 controls. The study does not report a specific odds ratio for this SNP.

Evidence quality The sole study reporting this association enrolled 250 IA patients and 294 controls (n = 544 total), which is a small sample for a GWAS. The variant reached the standard genome-wide significance threshold (p < 5 x 10^-8) and had statistical power of at least 0.8, both considered favorable indicators of a reliable signal. However, recruitment was limited to a single institution in Chuncheon, South Korea, and no independent replication cohort was included. The authors explicitly state that large population-based studies are needed to validate findings and describe the results as Korean-specific candidate variations. No conflicting evidence exists in the available data, but the overall evidence base is preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.