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Article

Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children

  • Authors:
    • Jing Chen
    • Xiangling Fang
    • Xiqiang Dang
    • Xiaochuan Wu
    • Zhuwen Yi
  • View Affiliations / Copyright

    Affiliations: Department of Dermatology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China, Department of Paediatrics, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China
  • Pages: 1997-2003
    |
    Published online on: November 10, 2014
       https://doi.org/10.3892/mmr.2014.2908
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Abstract

The present study aimed to investigate the distribution of paired box 2 (PAX2) gene polymorphisms in healthy populations and in patients with Henoch‑Schönlein purpura (HSP), focusing on the association between PAX2 gene polymorphisms and the susceptibility and clinical characteristics of HSP. Genomic DNA was extracted from the peripheral venous blood of 100 healthy children (mean age: 5±1.9 years) and 118 children with HSP (mean age: 10.2±2.3 years). Polymerase chain reaction (PCR) was used to amplify exons 1‑12 of the PAX2 gene. Denaturing high performance liquid chromatography and DNA sequencing analysis were conducted for screening of mutations in the PAX2 gene in the PCR products. No genetic polymorphism of the PAX2 gene was identified in exons 1‑7, 9, 10 or 12. Two single nucleotide polymorphisms (SNPs), which presented as complete linkage haplotype 798C>T/909A>C, were identified in exon 8. An SNP (1164T>A) was also identified in exon 11. No significant difference in the allele and genotype frequency distribution of exon 8 (798C>T) or 11 (1164T>A) of the PAX2 gene was identified between the HSP and control groups (P>0.05). However, the frequency of the PAX2 heterozygous genotype 798C>T in the HSP with nephritis (HSPN) group was significantly higher than those in the controls and in the HSP without nephritis group (P<0.05). Furthermore, no significant correlation was identified between the PAX2 gene exon 8 polymorphism (798 C>T) and the renal pathology of children with HSPN. An SNP (1164T>A) was identified in exon 11. The PAX2 heterozygous genotype 798C>T did not increase susceptibility to HSP, however, it may be used clinically as a screening indicator for HSP in children with a high risk of renal involvement.
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Copy and paste a formatted citation
Spandidos Publications style
Chen J, Fang X, Dang X, Wu X and Yi Z: Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children. Mol Med Rep 11: 1997-2003, 2015.
APA
Chen, J., Fang, X., Dang, X., Wu, X., & Yi, Z. (2015). Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children. Molecular Medicine Reports, 11, 1997-2003. https://doi.org/10.3892/mmr.2014.2908
MLA
Chen, J., Fang, X., Dang, X., Wu, X., Yi, Z."Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children". Molecular Medicine Reports 11.3 (2015): 1997-2003.
Chicago
Chen, J., Fang, X., Dang, X., Wu, X., Yi, Z."Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children". Molecular Medicine Reports 11, no. 3 (2015): 1997-2003. https://doi.org/10.3892/mmr.2014.2908
Copy and paste a formatted citation
x
Spandidos Publications style
Chen J, Fang X, Dang X, Wu X and Yi Z: Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children. Mol Med Rep 11: 1997-2003, 2015.
APA
Chen, J., Fang, X., Dang, X., Wu, X., & Yi, Z. (2015). Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children. Molecular Medicine Reports, 11, 1997-2003. https://doi.org/10.3892/mmr.2014.2908
MLA
Chen, J., Fang, X., Dang, X., Wu, X., Yi, Z."Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children". Molecular Medicine Reports 11.3 (2015): 1997-2003.
Chicago
Chen, J., Fang, X., Dang, X., Wu, X., Yi, Z."Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of Henoch‑Schönlein purpura in children". Molecular Medicine Reports 11, no. 3 (2015): 1997-2003. https://doi.org/10.3892/mmr.2014.2908
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