CTLA-4基因多态性与过敏性紫癜的相关性研究

Association between CTLA-4 gene polymorphism and Henoch-Schönlein purpura in children

摘要:

目的 探讨CTLA-4基因多态性与儿童过敏性紫癜 （HSP）的相关性。方法 选取60例HSP患儿为病例组，其中男33例，女27例；另选取30例健康儿童为对照组。按有无肾脏损害将HSP患儿分为紫癜性肾炎 （HSPN）组 （n=30）和Non-HSPN组 （n=30）。采用PCR-RFLP法，对CTLA-4基因+49及-1722位点各基因型及等位基因频率进行分析。结果 +49位点AA、AG、GG基因型及等位基因频率在病例组和对照组之间、HSPN组与Non-HSPN组之间、不同性别HSP患儿间比较差异均无统计学意义 （P > 0.05）。-1722位点TT、TC、CC基因型及等位基因频率在病例组和对照组之间、不同性别HSP患儿间比较差异均无统计学意义 （P > 0.05）；CC基因型及T、C等位基因频率在HSPN组与Non-HSPN组间比较差异有统计学意义 （P < 0.05）。将+49位点与-1722位点组合：各组合基因型频率在病例组和对照组之间、不同性别HSP患儿间比较差异无统计学意义 （P > 0.05）；GG+CC基因型组合在HSPN组与Non-HSPN组间比较差异有统计学意义 （P < 0.05）。结论 CTLA-4基因+49位点A/G基因多态性与HSP发病无关；-1722位点CC基因型及C等位基因，以及+49位点GG与-1722位点CC组合基因型可能为HSPN发病的危险因素。

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.