The Role of Aquaporin-4 Polymorphisms in the Development of Brain Edema After Middle Cerebral Artery Occlusion
- 1 April 2008
- journal article
- Published by Ovid Technologies (Wolters Kluwer Health) in Stroke
- Vol. 39 (4), 1333-1335
- https://doi.org/10.1161/strokeaha.107.500785
Abstract
Background and Purpose— Some patients develop severe brain edema after complete middle cerebral artery occlusion, whereas others do not. Aquaporin-4 ( AQP4 ) is the main water channel in the brain and has been shown to be critical for the development of brain edema after ischemia. We asked whether genetic variation in the AQP4 gene is related to the severity of brain edema after middle cerebral artery occlusion. Methods— We genotyped 10 single nucleotide polymorphisms distributed across the AQP4 gene in 41 patients with middle cerebral artery occlusion with and without severe brain edema and assessed single marker association as well as the linkage dysequilibrium structure across AQP4 . Results— One single nucleotide polymorphism (rs9951307) at the 3′ end of AQP4 was associated with severe brain edema (dominant model, P =0.01; OR, 0.10; 95% CI, 0.02 to 0.49 for the protective G-allele). Linkage dysequilibrium across AQP4 was low; no clear haplotype blocks could be identified for the assessment of haplotype association. Conclusions— This explorative study shows that genetic variation in AQP4 might contribute to brain edema formation after middle cerebral artery occlusion and warrants further investigation.Keywords
This publication has 9 references indexed in Scilit:
- Temporary loss of perivascular aquaporin-4 in neocortex after transient middle cerebral artery occlusion in miceProceedings of the National Academy of Sciences of the United States of America, 2006
- Three distinct roles of aquaporin-4 in brain function revealed by knockout miceBiochimica et Biophysica Acta (BBA) - Biomembranes, 2006
- Treatment of Cerebral EdemaThe Neurologist, 2006
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004
- An α-syntrophin-dependent pool of AQP4 in astroglial end-feet confers bidirectional water flow between blood and brainProceedings of the National Academy of Sciences of the United States of America, 2003
- Aquaporin-4 deletion in mice reduces brain edema after acute water intoxication and ischemic strokeNature Medicine, 2000
- Isolation and Functional Analysis of Alternative Promoters in the Human Aquaporin-4 Water Channel GeneGenomics, 1998
- The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain.Proceedings of the National Academy of Sciences of the United States of America, 1996
- 'Malignant' Middle Cerebral Artery Territory InfarctionArchives of Neurology, 1996