RGD Reference Report - Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. - Rat Genome Database

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

Authors: Altarescu, Gheona  Haim, Shimon  Elstein, Deborah 
Citation: Altarescu G, etal., Biomarkers. 2013 Nov;18(7):595-600. doi: 10.3109/1354750X.2013.836244. Epub 2013 Sep 10.
RGD ID: 13432161
Pubmed: PMID:24020479   (View Abstract at PubMed)
DOI: DOI:10.3109/1354750X.2013.836244   (Journal Full-text)


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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Fabry disease severityIAGP 13432161DNA:polymorphism:promoter:RGD 
Fabry disease severityISOAGT (Homo sapiens)13432161; 13432161DNA:polymorphism:promoter:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Agt  (angiotensinogen)

Genes (Mus musculus)
Agt  (angiotensinogen)

Genes (Homo sapiens)
AGT  (angiotensinogen)


Additional Information