Affiliations: Molecular Medicine Laboratory, Children's Hospital,
Faculty of Medicine, Ege University, Bornova, Izmir, Turkey | Department of Pediatrics, Faculty of Medicine, Inonu
University, Malatya, Turkey | Division of Pediatric Nephrology, Department of
Pediatrics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey | Izmir Dr. Behcet Uz Children's Hospital, Izmir,
Turkey
Note: [] Corresponding author: Dr. Sinem Nalbantoglu, PhD, Molecular
Medicine Laboratory, Children's Hospital, Faculty of Medicine, Ege University,
Bornova, Izmir, Turkey. Tel.: +90 533 8171181; Fax: +90 232 2537682; E-mail:
nalbantoglusinem@gmail.com
Abstract: Henoch-Schönlein purpura (HSP) is a small-vessel vasculitis of
autoimmune hypersensitivity, and renin-angiotensin system (RAS) regulates
vascular homeostasis and inflammation with activation of cytokine release.
Thus, we aimed to investigate the association between HSP and ACE I/D and AGT
M235T polymorphisms. Genotyping was determined by allele specific PCR and
PCR-RFLP. We obtained a significant difference in genotype distribution
(p=0.003) and allele frequencies (p<0.001) of ACE I/D polymorphism between
patients and controls, while no significant association was detected in
genotype distribution (p> 0.05) and allele frequencies (p> 0.05) of the
AGT M235T polymorphism. Risk assessment showed significant risk for HSP in the
subjects both with the ID + DD genotype (p=0.019, OR: 2.288, 95% CI:
1.136–4.609) and D allele (OR: D vs. I: 2.0528, 95% CI:
1.3632–3.0912, p=0.001) while no significant risk was obtained for HSP in
the subjects both with the MT + TT genotype (p=0.312, OR: 1.3905, 95% T vs. M:
1.065, 95% CI: 0.7326–2.6391) and T allele (OR: patients were stratified
by the presence of certain systemic complications of HSP, no significant
association was detected with ACE I/D, and AGT M235T polymorphisms. Our
findings suggest that ACE I/D polymorphism is significantly associated with HSP
susceptibility.
Keywords: Henoch-Schönlein purpura (HSP), ACE I/D, AGT M235T, Single Nucleotide Polymorphism (SNP), organ involvements, Genotype-phenotype correlation
