白细胞介素10基因多态性与儿童过敏性紫癜易感性的关系

Association between interleukin - 10 gene polymorphisms and susceptibility to Henoch - Schonlein purpura in children

目的探讨白细胞介素10（IL-10）基因多态性与儿童过敏性紫癜（HSP）易感性的关系及HSP的发病机制，为诊断、治疗及判断HSP预后提供科学依据。方法采用Massarray基因分型技术检测郑州市儿童医院2012年12月至2013年4月住院的112例HSP患儿（HSP组），其中包括39例紫癜性肾炎患儿（HSPN组）和184例健康体检儿童（健康对照组）的IL-加基因rsl800872、rs3024490、rs3790622、rs1518111、rs1554286、rs3024498等6个单核苷酸多态性（SNPs）的基因分布，并进行单倍型分析及连锁不平衡检验。同时检测HSP组与健康对照组儿童血清IL—10水平。结果HSP组患儿IL-10水平高于健康对照组（P〈0．01）。IL-10基因的6个SNPs位点在HSP组与健康对照组之间等位基因频率、基因型频率比较差异无统计学意义（P〉0．05）。6个SNP位点所构建的单倍型中，ATCATA、AGCGCA单倍型最常见，其次为ATTATA、CGCGCA和CTCATA单倍型。HSP组AGCGCA、ATCGCA、CTCATA单倍型频率显著高于健康对照组，差异有统计学意义（P=8．41e-012、0．003536、1．30e-011）。HSP组ATCATA、CGCGCA单倍型频率显著低于健康对照组，差异也有统计学意义（P=0．003519、4．94e-005）。在rs3790622位点，HSPN组与健康对照组比较，等位基因频率及基因型频率分布差异有统计学意义（P均=0．01）。结论HSP与血清IL-10水平有着密切关联。未发现IL-10基因多态性与HSP的发病存在相关关系。单倍型ATCATA、CGCGCA可能对儿童HSP的发生具有保护性作用。在rs3790622位点，T等位基因及cT基因型的存在可能是HSPN发病的保护因素。

Objective To explore the association between interleukin- 10 （IL- 10） gene polymorphism and susceptibility to Henoch -Sehonlein purpura（lISP） in children, and to further explore the pathogenesis of HSP, provide some scientific evidence for the diagnosis, treatment and prognosis of HSP. Methods One hundred and twelve patients with HSP（ HSP group）,in which 39 cases were HSP nephritis （HSPN group） hospitalized in Zhengzhou Children＇s Hospital from December of 2012 to April of 2013 and 184 healthy children （healthy control group）were recruited in this study. The distribution of patients and the healthy control group in single nucleotide polymorphisms （SNPs） of IL - 10 （ rs1800872, rs3024490, rs3790622, rsl518111 , rs1554286, rs3024498 ） was detected and compared by Seque-nom Massarray system analysis and meanwhile the haplotype analysis and linkage disequilibrium test were conducted. Simul- taneously, the serum levels of IL - 10 between HSP group and healthy control group were detected. Results The con- centration of IL- 10 in liSP group was higher than that of the healthy control group（ P 〈 0.01 ）. No significant diffe- rences were found in gene distribution between HSP group and the healthy control group （ P 〉 0.05 ）. For haplotypes a- nalysis,ATCATA,AGCGCA were the most common haplotypes,followed by CTCATA,CGCGCA and ATTATA haplo- types. By the chi -square test, tile levels of AGCGCA, ATCGCA, CTCATA haplotypes in HSP group were significantly higher than those in the healthy control group（ P = 8.41 e - 012,0. 003 536,1.30e - 011 ）. While the levels of ATCA- TA, CGCGCA baplotypes in HSP group were significantly lower than those in the healthy control group （P = 0. 003 519, 4.94e -005 ）. In the rs3790622, the allele frequency and the genotype frequency of the HSPN group were significantly higher compared with those of the healthy control group （ all P = 0.01 ）. Conclusions The children with HSP are closely linked to the serum levels of IL - 10. No significant associations were found between these variants and the sus- ceptibility to HSP. For haplotypes analysis, the ATCATA, CGCGCA haplotypes may play a protective role in HSP chil- dren. In the rs3790622 ,the T allele and CT genotype may be the protective factor in HSPN.