Wu Q, Hu L, Cai P, Li Y, Chen F, Kong L
Department of Laboratory, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
J Investig Allergol Clin Immunol. 2009;19(2):146-53.
One of the members of the T cell immunoglobulin (Ig) domain and mucin domain (TIM) gene family, TIM-1, located in the chromosome 5q31-33 region, has been associated with the development of T helper (T(H)) 2-biased immune responses and may be selectively expressed in T(H)2 cells. Previous studies have also shown an association between polymorphisms in the TIM-1 gene and asthma or asthma-related phenotypes.
The aim of the present study was to analyze the association between the TIM-1 polymorphisms -232G > A and 5383_5397 insertion/deletion (ins/del) and susceptibility to asthma in a group of patients from middle China.
Polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis and PCR-polyacrylamide gel electrophoresis were used to detect -232G > A and 5383_5397 ins/del genotypes in 302 asthmatic children and 206 controls. Serum total IgE was measured by chemiluminescence and specific IgE to common aeroallergens by immunoblot analysis.
We found no association between the -232G > A polymorphism and asthma or total serum IgE levels or statistically significant differences between asthma and control subjects in terms of genotype and allele frequency for the 5383_5397 ins/del polymorphism.We did, however, detect a difference in total serum IgE levels for 5383_5397 ins/ins genotypes in individuals with atopic asthma (P < .05) in that they had higher IgE levels than those with del/del and del/ins genotypes.
Our results suggest that the 5383_5397 ins/ins genotype in the TIM-1 gene is associated with elevated serum total IgE levels, particularly in individuals with atopic asthma. Further studies are needed to confirm such an association.
T细胞免疫球蛋白（Ig）结构域和粘蛋白结构域（TIM）基因家族成员之一的TIM-1，定位于染色体5q31 - 33区域，与2型辅助性T（Th2）偏向性免疫反应的发生有关，且可能在Th2细胞中选择性表达。既往研究还显示TIM-1基因多态性与哮喘或哮喘相关表型之间存在关联。
本研究旨在分析中国中部一组患者中TIM-1基因多态性-232G>A和5383_5397插入/缺失（ins/del）与哮喘易感性之间的关联。
采用聚合酶链反应（PCR）-限制性片段长度多态性分析及PCR-聚丙烯酰胺凝胶电泳检测302例哮喘儿童和206例对照中的-232G>A和5383_5397 ins/del基因型。通过化学发光法测定血清总IgE水平，采用免疫印迹分析法测定对常见吸入变应原的特异性IgE。
我们发现-232G>A多态性与哮喘或血清总IgE水平之间无关联，并且在5383_5397 ins/del多态性的基因型和等位基因频率方面，哮喘患者与对照受试者之间无统计学显著差异。然而，我们确实检测到特应性哮喘患者中5383_5397 ins/ins基因型的血清总IgE水平存在差异（P<.05），即他们的IgE水平高于del/del和del/ins基因型的患者。
我们的结果表明，TIM-1基因中的5383_5397 ins/ins基因型与血清总IgE水平升高有关，尤其是在特应性哮喘患者中。需要进一步研究来证实这种关联。
