RGD Reference Report - Renin-angiotensin system gene polymorphisms: association with susceptibility to Henoch-Schonlein purpura and renal involvement. - Rat Genome Database

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Renin-angiotensin system gene polymorphisms: association with susceptibility to Henoch-Schonlein purpura and renal involvement.

Authors: Ozkaya, O  Soylemezoglu, O  Gonen, S  Misirlioglu, M  Tuncer, S  Kalman, S  Buyan, N  Hasanoglu, E 
Citation: Ozkaya O, etal., Clin Rheumatol. 2006 Nov;25(6):861-5. Epub 2006 Mar 7.
RGD ID: 11039045
Pubmed: PMID:16521052   (View Abstract at PubMed)
DOI: DOI:10.1007/s10067-006-0207-4   (Journal Full-text)

The clinical course of Henoch-Schonlein Purpura (HSP) in children is variable, with some patients having a much more rapidly progressing course than others. We investigated whether polymorphisms of the renin-angiotensin system (RAS) genes are involved in HSP. Three RAS genotypes were examined in 114 children with HSP and in 164 healthy children: the angiotensin I converting enzyme (ACE) insertion/deletion polymorphism, the M235T mutation in the angiotensinogen gene (Agt), and the A1166C in the angiotensin II type I receptor (AT1R) gene. Significant differences were observed between HSP patients and control group in the frequency of ACE and Agt genotypes (p=0.004 and p=0.003, respectively). The TT genotype of Agt gene was associated with a 3.5-fold increased risk for Henoch-Schonlein nephritis (HSN) compared with the MM/MT genotype (odds ratio, 3.5; 95% confidence interval, 1.2-10.4). There was a trend to a higher prevalence of the TT genotype of the Agt gene among patients with nephrotic range proteinuria when compared to the patients with mild proteinuria, although the difference did not reach a statistical significance. The results of this study suggest that polymorphisms of ACE gene and Agt gene likely influence the risk of developing HSP. However, among the three genes of the RAS studies, only Agt gene was associated with the susceptibility to HSN. RAS gene polymorphisms studied are not associated with the presence of nephrotic range proteinuria. Additional studies are warranted to verify the correlation between RAS gene polymorphisms and susceptibility to HSP.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AGTHumanHenoch-Schoenlein purpura  IAGP DNA:missense mutation:cds:p.M235T (human)RGD 
AgtRatHenoch-Schoenlein purpura  ISOAGT (Homo sapiens)DNA:missense mutation:cds:p.M235T (human)RGD 
AgtMouseHenoch-Schoenlein purpura  ISOAGT (Homo sapiens)DNA:missense mutation:cds:p.M235T (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AGTHumanPurpura  IAGP DNA:missense mutation:cds:p.M235TRGD 
Objects Annotated

Genes (Rattus norvegicus)
Agt  (angiotensinogen)

Genes (Mus musculus)
Agt  (angiotensinogen)

Genes (Homo sapiens)
AGT  (angiotensinogen)


Additional Information