Key result
C and/or CC alleles of AGT Promoter and AGTR1 were significantly correlated with stroke and neurologic severity scores in patients with Fabry disease.
Why the study?
Do AGT Promoter and AGTR1 gene polymorphisms correlate with stroke incidence and neurologic phenotype in patients with Fabry disease?
Case-Control (n=112)
Do AGT Promoter and AGTR1 gene polymorphisms correlate with stroke incidence and neurologic phenotype in patients with Fabry disease?
AGT Promoter and AGTR1 genotypes are significantly correlated with stroke and neurologic severity in patients with Fabry disease.
May inform future risk stratification in Fabry disease; hypothesis-generating and should not yet change practice.
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.
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Altarescu et al. (2013) conducted a case-control in Fabry disease (n=112). AGT Promoter and AGTR1 genotypes (C and/or CC alleles) vs. Other genotypes / Matched controls was evaluated on Stroke incidence, Fabry-specific severity score (MSSI), and neurologic sub-score (n-MSSI). C and/or CC alleles of AGT Promoter and AGTR1 were significantly correlated with stroke and neurologic severity scores in patients with Fabry disease.
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