Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. (November 2013)

• Record Type: Journal Article
• Authors: Altarescu, Gheona; Haim, Shimon; Elstein, Deborah
• Is Part Of: Biomarkers. Volume 18:Number 7(2013)
• Page Start: 595
• Page End: 600
• Publication Date: 2013-11
• Subjects: Biochemical markers -- Periodicals; 610.28
• DOI: 10.3109/1354750X.2013.836244
• Languages: English
• ISSNs: 1354-750X

Abstract

<abstract> <title>Abstract</title> <p> <italic>Context</italic>: Stroke and/or white matter lesions (WMLs) are significant in Fabry disease. Polymorphisms of angiotensinogen (<italic>AGT</italic>), <italic>AGT Promoter</italic> and angiotensinogen II receptor type 1 (<italic>AGTR1</italic>) are correlated with WMLs.</p> <p> <italic>Objectives</italic>: We compared <italic>AGT. AGT Promoter</italic> and <italic>AGTR1</italic> genotypes to stroke incidence, Fabry-specific [Mainz Severity Score Index (MSSI)] severity score, and neurologic sub-score (n-MSSI).</p> <p> <italic>Methods</italic>: Sixty-three Fabry patients and 49 matched controls plus historic controls were genotyped. Institutional Review Board approval was received.</p> <p> <italic>Results. C</italic> and/or <italic>CC</italic> alleles of <italic>AGT Promoter</italic> and <italic>AGTR1</italic> were significantly correlated with stroke and n-MSSI.</p> <p> <italic>Discussion/conclusion</italic>: Findings are suggestive of role of <italic>AGT Promoter</italic> and <italic>AGTR1</italic> genotypes in Fabry phenotypes.</p> </abstract>