Variants of the elastin (<i>ELN</i>) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach

Paterakis, Konstantinos; Koutsias, Stelios; Doxani, Chrysoula; Xanthopoulou, Paraskevi; Kokkali, Chrysoula; Mpoulimari, Ioanna; Tziastoudi, Maria; Karampelas, Ioannis; Dardiotis, Efthimios; Hadjigeorgiou, Georgios M.; Brotis, Alexandros; Ζιντζαράς, Ηλίας

doi:10.1080/00207454.2016.1212027

Cited by 9 publications

(3 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… 11) A recent meta-analysis on four studies, 11 , 13 , 15 , 16 ) has shown that INT20 1315T > C variant has protective effect on IA formation (OR = 0.66). 14) However, the protective effect of INT20 1315T > C variants is mainly found in East-Asian population. The other three studies did not yield an association between INT20 1315T > C and IA.…”

Section: Discussionmentioning

confidence: 99%

“…Other variants such as EX20 1264G > 4, INT23 1051 + 24 T > C, and INT4 196 + 71G > A are not associated with IA. 14) …”

Section: Discussionmentioning

confidence: 99%

“… 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). However, its association is not shown in Caucasian population.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Jeon

Hong

Kim

et al. 2018

Neurol. Med. Chir.(Tokyo)

View full text Add to dashboard Cite

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 association with the development of IA (OR: 1.27, 95% CI: 1.44–3.81, P = 0.607). Interestingly, the odds of having rs2856728 variant was approximately 2-fold higher in males than that in females (OR: 3.46 vs. 1.88, P < 0.05). However, none of SNPs showed difference between single and multiple IA in this study. This preliminary study implies that the rs2856728 variant in ELN gene polymorphisms might play crucial roles in the development and pathogenesis of IA in Korean population.

show abstract