RGD Reference Report - Effect of paraoxonase 1 gene polymorphisms on clinical course of Henoch-Schonlein purpura. - Rat Genome Database

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Effect of paraoxonase 1 gene polymorphisms on clinical course of Henoch-Schonlein purpura.

Authors: Yilmaz, A  Emre, S  Agachan, B  Bilge, I  Yilmaz, H  Ergen, A  Isbir, T  Sirin, A 
Citation: Yilmaz A, etal., J Nephrol. 2009 Nov-Dec;22(6):726-32.
RGD ID: 11552576
Pubmed: PMID:19967651   (View Abstract at PubMed)

BACKGROUND: Henoch-Schonlein purpura (HSP) is a systemic vasculitis; its pathogenesis is still unknown. Oxidative stress may play a role in the pathogenesis of HSP. Paraoxonase1 (PON1) is an antioxidant enzyme. Two polymorphisms have been defined in the coding region of the PON1 gene, Q/R192 and L/M55. In the present study, we aimed to investigate the effect of PON1 gene polymorphisms on the course and renal involvement of HSP in Turkish children. METHOD: Forty-six patients with HSP were compared with 34 healthy children regarding the distribution of PON1 polymorphisms. RESULTS: PON1 Q/R192 genotype distribution was 58.6% QQ, 32.6% QR and 8.8% RR in the HSP group and 14.3% QQ, 50% QR and 35.7% RR in the control group. The frequency of QQ genotype was higher in the HSP group, and the presence of QQ genotype increased the risk by 3.42-fold for developing HSP (p=0.000, Fisher exact test; odds ratio [OR] = 2.048; 95% confidence interval [95% CI], 1.396-3.00). PON1 L/M55 genotype distribution was 50% LL, 43.5% LM and 6.5% MM in the HSP group and 48% LL, 26% LM and 26% MM in the control group. The frequency of MM genotype was lower in the HSP group, and the presence of MM genotype decreased the risk by 7.38-fold for developing HSP (p=0.009, Fisher exact test; OR=7.380, 95% CI, 1.474-36.953). CONCLUSION: PON1 polymorphisms may contribute to the pathogenesis and course of HSP, but we suggest that further investigations with larger patient groups are required to confirm our results.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PON1HumanHenoch-Schoenlein purpura susceptibilityIAGP DNA:missense mutations:cds:p.L55M and p.Q192R (human)RGD 
Pon1RatHenoch-Schoenlein purpura susceptibilityISOPON1 (Homo sapiens)DNA:missense mutations:cds:p.L55M and p.Q192R (human)RGD 
Pon1MouseHenoch-Schoenlein purpura susceptibilityISOPON1 (Homo sapiens)DNA:missense mutations:cds:p.L55M and p.Q192R (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PON1HumanAbnormal granulocyte morphology susceptibilityIAGP DNA:missense mutations:cds:p.L55M and p.Q192RRGD 
PON1HumanChildhood onset susceptibilityIAGP DNA:missense mutations:cds:p.L55M and p.Q192RRGD 
PON1HumanSkin rash susceptibilityIAGP DNA:missense mutations:cds:p.L55M and p.Q192RRGD 
Objects Annotated

Genes (Rattus norvegicus)
Pon1  (paraoxonase 1)

Genes (Mus musculus)
Pon1  (paraoxonase 1)

Genes (Homo sapiens)
PON1  (paraoxonase 1)


Additional Information