Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach
| Autor: | Ioannis Karampelas, Efthimios Dardiotis, Paraskevi Xanthopoulou, Chrysoula Doxani, Georgios Hadjigeorgiou, S. Koutsias, Alexandros G. Brotis, Ioanna Mpoulimari, Maria Tziastoudi, Elias Zintzaras, Konstantinos Paterakis, Chrysoula Kokkali |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Biology 03 medical and health sciences 0302 clinical medicine Aneurysm Genetic model medicine Humans Gene Genetic association Genetics General Neuroscience Eln gene Risk effect Intracranial Aneurysm General Medicine Odds ratio medicine.disease Surgery Elastin 030104 developmental biology biology.protein 030217 neurology & neurosurgery Genome-Wide Association Study |
| Zdroj: | The International journal of neuroscience. 127(7) |
| ISSN: | 1563-5279 |
| Popis: | 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.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 1315TC, EX20 1264GA, INT23 1501 + 24TC and INT4 196 + 71GA) with susceptibility to IA was conducted using a genetic model-free approach. The risk effects were estimated using the generalized odds ratio (ORG) metric.The analysis showed significant association for the INT20 1315TC variant [ORG = 0.66 (0.45-0.95)], indicating a protection effect. For the variants EX20 1264GA, INT23 1501 + 24TC and INT4 196 + 71GA, no statistically significant association with IAs was found.There is evidence that the ELN variant INT20 1315TC is implicated in the development of IA; however, the results should be interpreted with caution since the number of published studies is limited. |
| Databáze: | OpenAIRE |
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