Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients

It has been suggested that the elastin gene is a candidate gene for the development of intracranial aneurysms (IAs). We investigated the association of single-nucleotide polymorphism (SNPs) in the elastin gene in sporadic subarachnoid hemorrhage and in patients with unruptured aneurysms in China. We genotyped 446 (47.9%) IA patients (308 ruptured and 138 unruptured) and 485(52.1%) control subjects for seven exonic and intronic SNPs in the elastin gene and then evaluated their allelic associations with sporadic ruptured and unruptured IAs. We found that IA is associated with two SNPs in the elastin gene: rs2071307 (odds ratio 2.87; 95% confidence interval, 2.26-3.64; p < 0.001) and rs2856728 (odds ratio 2.12; 95% confidence interval, 1.71-2.62; p < 0.001). Furthermore, the minor allele of rs2071307 (allele A) was also associated with IA rupture; 31.3% of patients with ruptured IAs were carriers of the minor allele, whereas only 23.2% of patients with unruptured IAs carried the minor allele (odds ratio 1.51; 95% confidence interval, 1.09-2.10; p = 0.013). In conclusion, our study indicates that the elastin gene may be associated with the formation of IAs, and importantly, that it may also be associated with the rupture of IAs.