We observed that rs42524 in the COL1A2 gene was associated with a significant increase in the risk of IA in Japanese patients (allelic model: OR, 1.94; 95% CI, 1.03-3.64; p = 0.04); the rs1800255 polymorphism in the COL3A1 gene was significantly correlated with Chinese IA patients (allelic model: OR, 1.50; 95% CI, 1.30-1.73; p < 0.001); and rs2621215 was significantly correlated with IA for the heterozygous model (OR, 1.58; 95% CI, 1.15-2.17; p = 0.005) and the dominant model (OR, 1.49; 95% CI, 1.09-2.02; p = 0.012).
The available literature data demonstrated that there is no association of collagen type-(2a) and intracranial aneurysms, through EX28 G>C (rs42524) polymorphism according to the model-fitting process and the model-free approach.
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).
In this study, we investigated the association of rs42524 in the alpha-2 type I collagen (COL1A2) gene, which has been identified as a risk variant for intracranial aneurysm, with nAMD and PCV in a Han Chinese population.
The polymorphism rs42524 of the COL1A2 gene was identified by polymerase chain reaction-based restriction analysis in genomic DNA from 226 patients with sporadic IAs (mean age 51.49 +/- 11.47 years) and 326 control participants (mean age 52.33 +/- 10.50 years).
We observed that rs42524 in the COL1A2 gene was associated with a significant increase in the risk of IA in Japanese patients (allelic model: OR, 1.94; 95% CI, 1.03-3.64; p = 0.04); the rs1800255 polymorphism in the COL3A1 gene was significantly correlated with Chinese IA patients (allelic model: OR, 1.50; 95% CI, 1.30-1.73; p < 0.001); and rs2621215 was significantly correlated with IA for the heterozygous model (OR, 1.58; 95% CI, 1.15-2.17; p = 0.005) and the dominant model (OR, 1.49; 95% CI, 1.09-2.02; p = 0.012).
Regarding the INT46 T>G (rs2621215) polymorphisms, the latter models indicated that there could be a protective effect of the G-allele against the development of intracranial aneurysms.