title: Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Findings are suggestive of role of AGT Promoter and AGTR1 genotypes in Fabry phenotypes.
authors.affiliation: Genetic Institute, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University School of Medicine , Jerusalem , Israel and.
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.forename: Shimon
authors.initials: S
authors.lastname: Haim
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
mesh_terms: D000293:Adolescent; D000328:Adult; D000808:Angiotensinogen / Q000235:genetics*; D002545:Brain Ischemia / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D000795:Fabry Disease / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D015995:Prevalence; D011401:Promoter Regions, Genetic; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C544065:AGTR1 protein, human; D044140:Receptor, Angiotensin, Type 1; D000808:Angiotensinogen