BACKGROUND: COL1A2, which encodes collagen type I alpha2, has long been suggested to be a potential positional and functional candidate gene for intracranial aneurysm. We performed a meta-analysis to assess the association between COL1A2 rs42524 polymorphism and the risk of intracranial aneurysm.

MATERIAL AND METHODS: We conducted a systematic search for relevant literature from the following databases up to 22 July 2016: PubMed, Embase, Web of Science, and China National Knowledge Infrastructure. The strength of association between gene and disease was estimated using odds ratios (ORs) with 95% confidence intervals (CIs) under 5 genetic models.

RESULTS: A total of 6 qualified studies were enrolled in this meta-analysis. Pooling results indicated a significant association between COL1A2 rs42524 polymorphism and intracranial aneurysm risk under 4 genetic models (C vs. G: OR=1.74, 95%CI=1.34–2.26; GC vs. GG: OR=1.81, 95%CI=1.37–2.41; CC+GC vs. GG: OR=1.74, 95%CI=1.28–2.36; CC vs. GC+GG: OR=1.76, 95%CI=1.02–3.04). This association was still robust when stratified by ethnicity, intracranial aneurysm type, or Hardy-Weinberg Equilibrium, which was stronger in Asian than in Caucasians. No publication bias was observed.

CONCLUSIONS: This meta-analysis suggests COL1A2 rs42524 is a significant risk factor for IA susceptibility, with an especially strong effect in Asian people. Further larger-scale epidemiological studies among different ethnicities are warranted to confirm our findings.

Keywords: Collagen Type I, intracranial aneurysm, Polymorphism, Genetic