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目的研究T细胞免疫球蛋白域黏蛋白域蛋白-1(TIM-1)启动子-1454G/A基因多态性与儿童过敏性紫癜(HSP)的相关性,探讨HSP的遗传易感因素。方法2008年3月至2009年2月安徽医科大学第一附属医院、安徽省立儿童医院住院HSP患儿143例,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析、基因测序等技术测定HSP患儿和178名正常儿童(对照组)的TIM-1基因多态性,计算基因型和等位基因频率,比较各组间关系。结果HSP组基因型及等位基因频率与对照组比较差异无统计学意义(P>0.05),但63例伴肾脏损害者即紫癜性肾炎(HSPN)组与80例不伴肾脏受累组-1454G/A3个基因型间比较差异有统计学意义(P<0.05),且HSPN患儿携带-1454G等位基因频率增高(OR2.375,95%CI1.168～4.830,P<0.05)。结论TIM-1基因启动子-1454G/A基因多态性可能与HSP易感性无关联,但携带-1454G等位基因的患儿出现HSPN风险增高,提示TIM-1基因多态性可能在决定HSP患儿肾脏受累遗传易感性方面有重要作用。
Objective To investigate the relationship between T-cell immunoglobulin domain mucin domain protein-1 (TIM-1) promoter -1454G / A polymorphism and childhood Henoch-Schonlein purpura (HSP) and to explore the genetic susceptibility to HSP. Methods From March 2008 to February 2009, 143 cases of HSP inpatients were admitted to the First Affiliated Hospital of Anhui Medical University and Anhui Provincial Children’s Hospital. PCR-RFLP analysis was used to analyze the association between HSP, Gene sequencing and other techniques were used to determine the TIM-1 gene polymorphism in HSP children and 178 normal children (control group). The genotypes and allele frequencies were calculated and the relationships between groups were compared. Results There was no significant difference in genotype and allele frequency between HSP group and control group (P> 0.05). However, 63 cases with HSPN and 80 cases without renal involvement / A3 genotypes were significantly different (P <0.05), and the frequency of -1454G allele in HSPN children was higher (OR2.375,95% CI1.168-4.830, P <0.05). Conclusion The TIM-1 gene promoter -1454G / A gene polymorphism may not be associated with the susceptibility to HSP, but the risk of HSPN is higher in children with -1454G allele, suggesting that TIM-1 gene polymorphism may play an important role in determining HSP Kidney involvement in children with genetic predisposition has an important role.