Hou Hong-Hong, Huang Yan-Ping, Liu Li, He Gai-Tao
Department of Pediatrics, Xi'an Central Hospital, Xi'an 710003, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Mar;19(3):296-302. doi: 10.7499/j.issn.1008-8830.2017.03.009.
To investigate the association between CTLA-4 gene polymorphism and Henoch-Schönlein purpura (HSP) in children.
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.
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).
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.
探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因多态性与儿童过敏性紫癜(HSP)的关系。
选取60例确诊为HSP的患儿作为病例组,其中男33例,女27例。选取30例健康儿童作为对照组。根据是否存在肾炎将患者进一步分为紫癜性肾炎(HSPN)组和非紫癜性肾炎(non-HSPN)组(每组各30例)。采用聚合酶链反应-限制性片段长度多态性方法分析+49和-1722位点的基因型及等位基因频率。
在+49位点检测到AA、AG和GG基因型;病例组与对照组之间、HSPN组与non-HSPN组之间以及男性与女性患者之间,基因型和等位基因频率均无显著差异(P>0.05)。在-1722位点检测到TT、TC和CC基因型;病例组与对照组之间以及男性与女性患者之间,基因型和等位基因频率均无显著差异(P>0.05)。HSPN组与non-HSPN组之间的CC基因型频率以及T和C等位基因频率存在显著差异(P<0.05)。+49 A/G和-1722 T/C的联合分析显示,病例组与对照组之间以及男性与女性患者之间的基因型频率无显著差异(P>0.05)。GG-CC组合在HSPN组与non-HSPN组之间存在显著差异(P<0.05)。
CTLA-4 +49 A/G多态性与HSP无关。CTLA-4 -1722的CC基因型和C等位基因以及+49 A/G的GG与-1722 T/C的CC组合可能是HSPN的危险因素。