Choi Jeong-Hee, Kim Seung-Hyun, Suh Chang-Hee, Nahm Dong-Ho, Park Hae Sim
Department of Pulmonology and Allergy, Bundang Jesaeng General Hospital, Seongnam, Korea.
J Korean Med Sci. 2005 Jun;20(3):367-72. doi: 10.3346/jkms.2005.20.3.367.
The pathogenic mechanism of ASA-induced urticaria/angioedema (AIU) is still poorly understood, but it has been known that histamine releasing by cutaneous mast cell activation is considered to be an important role. Considering the importance of histamine in AIU, we speculated that a genetic abnormality of histamine-related genes such as a high-affinity IgE receptor, a metabolic enzyme of histamines and histamine receptors, may be involved in the development of AIU. Enrolled in the study were 110 patients with AIU, 53 patients without ASA hypersensitivity who had various drug allergies presenting as exanthematous skin symptoms, and 99 normal healthy controls (NC). Eleven single nucleotide polymorphisms (SNPs) of the beta chain of the high-affinity IgE receptor (FCER1B) and three histamine-related genes-histamine N-methyltransferase (HNMT), histamine H1 receptor (HRH1), histamine H2 receptor (HRH2)-were screened using the SNP-IT assay based on a single base extension method. No significant differences were observed in allele and genotype frequencies, and haplotype frequencies of all the SNPs of FCER1B, HNMT, HRH1, and HRH2 among the three groups (p>0.05, respectively). These results suggest that the polymorphisms of FCER1B and the three histamine-related genes may not contribute to the development of AIU phenotype in the Korean population.
阿司匹林诱发的荨麻疹/血管性水肿(AIU)的发病机制仍未完全明确,但已知皮肤肥大细胞激活释放组胺被认为起重要作用。鉴于组胺在AIU中的重要性,我们推测组胺相关基因的遗传异常,如高亲和力IgE受体、组胺代谢酶和组胺受体,可能与AIU的发生有关。本研究纳入了110例AIU患者、53例无阿司匹林超敏反应但有各种药物过敏表现为皮疹性皮肤症状的患者以及99名正常健康对照(NC)。使用基于单碱基延伸法的SNP-IT分析筛选了高亲和力IgE受体β链(FCER1B)的11个单核苷酸多态性(SNP)以及三个组胺相关基因——组胺N-甲基转移酶(HNMT)、组胺H1受体(HRH1)、组胺H2受体(HRH2)。三组之间FCER1B、HNMT、HRH1和HRH2所有SNP的等位基因频率、基因型频率和单倍型频率均未观察到显著差异(p均>0.05)。这些结果表明,FCER1B和三个组胺相关基因的多态性可能对韩国人群AIU表型的发生没有影响。