Advances in Clinical and Experimental Medicine

Adv Clin Exp Med
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Advances in Clinical and Experimental Medicine

2017, vol. 26, nr 4, July, p. 661–664

doi: 10.17219/acem/62896

PubMed ID: 28691415

Publication type: original article

Language: English

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Creative Commons BY-NC-ND 3.0 Open Access

Association of ACE, VEGF and CCL2 gene polymorphisms with Henoch–Schönlein purpura and an evaluation of the possible interaction effects of these loci in HSP patients

Tahereh Mohammadian1,B,C, Mortaza Bonyadi2,A,B,C,D,E,F, Elahe Nabat1,B, Mandana Rafeey3,B

1 Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran

2 University of Tabriz

3 Liver and Gastrointestinal Research Center, Tabriz University of Medical Sciences, Tabriz, Iran


Background. Henoch–Schönlein purpura (HSP) is a multisystem, small vessel, leucocytoclastic vasculitis. It is predominantly a childhood vasculitis, rarely reported in adults. Studies have shown that several different genetic factors such as genes involved in inflammatory system and renin-angiotensin system (RAS) are important in the pathogenesis of Henoch–Schönlein purpura.
Objectives. The purpose of this study was to evaluate the independent effect of 3 gene polymorphisms including CCL2-2518 C/T, VEGF-634G/C and ACE(I/D) with HSP disease and their possible joint interactions in developing the disease.
Material and Methods. In this case-control study 47 HSP cases and 74 unrelated healthy controls were enrolled for evaluation. All individuals were genotyped for CCL2-2518C/T, VEGF-634G/C and ACE(I/D) gene polymorphisms. The possible association of these polymorphisms with susceptibility to develop HSP disease independently and in different joint combinations was evaluated.
Results. The frequencies of TT genotype and T allele of CCL2-2518C/T gene polymorphism and CC genotype and C allele of VEGF-634G/C gene polymorphism were significantly high in HSP children (p-values = 0.005 and = 0.007 respectively). Interestingly, studying the joint interaction of these 2 genotypes (CC genotype of VEGF G-634C and TT genotype of CCL2 C-2518T) in this cohort showed a more significant effect in the development of the disease (p < 0.000, OR = 6.009). The frequency of TT genotype of CCL2 gene when combined with II genotype of ACE gene in HSP children was significantly higher (p < 0.000, OR = 4.213).
Conclusion. The results of this pilot study provide evidence of the possible gene–gene interaction effects of CCL2, VEGF and ACE genes in developing HSP disease.

Key words

CCL2, VEGF, Henoch–Schönlein purpura, gene–gene interaction effect, ACE

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