Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease

作者：Altarescu Gheona; Haim Shimon; Elstein Deborah^*

来源：Biomarkers, 2013, 18(7): 595-600.

DOI：10.3109/1354750X.2013.836244

• AGT
• AGTR1
• Mainz Severity Score Index
• RAAS
• white matter lesions

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

• 出版日期2013-11