Abstract：Objective To investigate the association between CTLA-4 gene polymorphism and Henoch-Schönlein purpura (HSP) in children. Methods Sixty children who were diagnosed with HSP were enrolled as the case group, consisting of 33 males and 27 females. Thirty healthy children were enrolled as the control group. The patients were further divided into HSP nephritis (HSPN) and non-HSPN groups (n=30 each) according to the presence or absence of nephritis. Polymerase chain reaction-restriction fragment length polymorphism was used to analyze the genotype and allele frequencies at +49 and -1722 loci. Results AA, AG, and GG genotypes were detected at +49; neither genotype nor allele frequencies showed significant differences between the case and control groups, between the HSPN and non-HSPN groups, and between male and female patients (P > 0.05). TT, TC, and CC genotypes were detected at -1722; neither genotype nor allele frequencies showed significant differences between the case and control groups and between male and female patients (P > 0.05). There were significant differences in CC genotype frequency and T and C allele frequencies between the HSPN and non-HSPN groups (P < 0.05). Combinational analysis of +49 A/G and -1722 T/C showed no significant differences in the genotype frequency between the case and control groups and between male and female patients (P > 0.05). GG-CC combination showed a significant difference between the HSPN and non-HSPN groups (P < 0.05). Conclusions CTLA-4 +49 A/G polymorphism is not associated with HSP. CC genotype and C allele of CTLA-4-1722 and the combination of GG at +49 A/G and CC at -1722 T/C may be risk factors for HSPN.
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