This Article Full Text Full Text (PDF) All Versions of this Article: 39/4/1333    most recent STROKEAHA.107.500785v1 Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Google Scholar Articles by Kleffner, I. Articles by Kuhlenbäumer, G. PubMed PubMed Citation Articles by Kleffner, I. Articles by Kuhlenbäumer, G. Related Collections Clinical genetics Cerebrovascular disease/stroke Acute Cerebral Infarction

(Stroke. 2008;39:1333.)
© 2008 American Heart Association, Inc.

Research Letters

The Role of Aquaporin-4 Polymorphisms in the Development of Brain Edema After Middle Cerebral Artery Occlusion

Ilka Kleffner, MD; May Bungeroth; Hagen Schiffbauer, MD; Wolf-Ruediger Schäbitz, MD; E. Bernd Ringelstein, MD Gregor Kuhlenbäumer, MD

From the Departments of Neurology (I.K., W.R.S., E.B.R., G.K.) and Clinical Radiology (H.S.) and the Leibniz-Institute of Atherosclerosis Research (M.B., E.B.R., G.K.), University of Münster, Münster, Germany.

Correspondence to Ilka Kleffner, MD, Department of Neurology, University of Muenster, Albert-Schweitzer-Str 33, 49149 Muenster, Germany. E-mail kleffnil{at}uni-muenster.de

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.

Key Words: brain • cerebral infarct • edema • genetics • middle cerebral artery occlusion • polymorphisms