Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach. (3rd July 2017)

• Record Type: Journal Article
• Authors: Paterakis, Konstantinos; Koutsias, Stelios; Doxani, Chrysoula; Xanthopoulou, Paraskevi; Kokkali, Chrysoula; Mpoulimari, Ioanna; Tziastoudi, Maria; Karampelas, Ioannis; Dardiotis, Efthimios; Hadjigeorgiou, Georgios; Brotis, Alexandros G.; Zintzaras, Elias
• Is Part Of: International journal of neuroscience. Volume 127:Number 7(2017)
• Page Start: 567
• Page End: 572
• Publication Date: 2017-07-03
• Subjects: ELN -- elastin gene -- intracranial aneurysm -- subarachnoid hemorrhage -- intracranial hemorrhage -- genetic association; Nervous system -- Periodicals; 612.805
• DOI: 10.1080/00207454.2016.1212027
• Languages: English
• ISSNs: 0020-7454

Abstract

Abstract : Background : The presence of an intracranial aneurysm (IA) is thought to have a genetic origin. The genetic association studies (GAS) that investigated the association between IA and elastin gene ( ELN ) variants have produced contradictory or inconclusive results. Materials and methods : In order to decrease the uncertainty of estimated genetic risk effects, a meta-analysis of published GAS-related variants in the ELN gene ( ELN INT20 1315T > C, EX20 1264G > A, INT23 1501 + 24T > C and INT4 196 + 71G > A) with susceptibility to IA was conducted using a genetic model-free approach. The risk effects were estimated using the generalized odds ratio (ORG) metric. Results : The analysis showed significant association for the INT20 1315T > C variant [ORG = 0.66 (0.45–0.95)], indicating a protection effect. For the variants EX20 1264G > A, INT23 1501 + 24T > C and INT4 196 + 71G > A, no statistically significant association with IAs was found. Conclusion : There is evidence that the ELN variant INT20 1315T > C is implicated in the development of IA; however, the results should be interpreted with caution since the number of published studies is limited.