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

Abstract

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 polymorphisms (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.

Apolipoprotein E polymorphism and the risk of intracranial aneurysms in a Chinese population

“…Authors of a case-control study in a Chinese population suggested that the miR-34b/c rs4938723CC and TP53 Arg72-Pro polymorphisms may be involved in the susceptibility to intracranial aneurysms [ 18 ]. Evidence from a case-control study indicated that the elastin gene polymorphism might be associated with the formation and the rupture of intracranial aneurysms [ 19 ]. Evidence from a genetic meta-analysis of 8 genes and 13 polymorphisms in approximately 20,000 individuals showed that there was a likely genetic basis to sporadic intracranial aneurysms.…”

Plasma Soluble Human Elastin Fragments as an Intra‐Aneurysmal Localized Biomarker for Ruptured Intracranial Aneurysm

“…Further highlighting the role of elastin in aneurysmal rupture, a large retrospective series in China reported that 2 single‐nucleotide polymorphisms in elastin genes were associated with intracranial aneurysm formation and rupture 10. Similarly, a study in the Dutch population concluded that variants and haplotypes within the elastin gene were associated with risk of sporadic subarachnoid hemorrhage 11.…”

Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in Koreans

“… 9) Since arterial wall of IA has decreased level of ECM, 10) ELN gene has been studied as a candidate for IA. 11) Although two studies have shown a possible association between ELN gene in IA formation, 12 , 13) positive correlation between ELN gene and IA is not revealed in most studies. According to a meta-analysis by Paterakis et al, 14) ELN INT20 1315T > C variants is associated with IA formation (odds ratio [OR]: 0.66).…”

“… 13 , 15 , 16) Regarding ELN EX20 1264G > A, its association with IA formation is not significant in the three studies of Caucasian, although it is significant in one study on East Asians. 11) In addition, higher incidence of IA in Asian compared to that in Caucasian has been reported. 17) These results suggest that ELN variants could affect IA formation with ethnical difference.…”