{Reference Type}: Journal Article
{Title}: Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach.
{Author}: Paterakis K;Koutsias S;Doxani C;Xanthopoulou P;Kokkali C;Mpoulimari I;Tziastoudi M;Karampelas I;Dardiotis E;Hadjigeorgiou G;Brotis AG;Zintzaras E;
{Journal}: Int J Neurosci
{Volume}: 127
{Issue}: 7
{Year}: Jul 2017
{Factor}: 2.59
{DOI}: 10.1080/00207454.2016.1212027
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.