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

ABSTRACT: Elastin encoded by elastin gene (ELN) is a crucial extracellular matrix protein responsible for arterial resilience. The objective of this study was to identify single nucleotide polymorphisms (SNPs) of ELN gene susceptible to intracranial aneurysm (IA) in Korean population. Two SNPs of ELN gene, rs2071307 (Gly422Ser) and rs2856728 (intron), were genotyped in 90 patients with IA and 90 age and frequency matched controls. Fisher's exact test was conducted to evaluate allelic association with IA. Of the two SNPs in ELN gene, T allele of rs2856728 (intron) showed statistically significant association with increased development of IA (odds ratio [OR]: 2.34, 95% confidence interval [CI]: 1.44-3.81, P = 7.6 × 10^-4). However, G allele of rs2071307 (Gly422Ser) had no significant associa

SUBMITTER: Jeon JP 

PROVIDER: S-EPMC5785693 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature