Identification of Genes for High IgE responsiveness in Chromosomes 5q31 and 11q13

染色体 5q31 和 11q13 中高 IgE 反应性基因的鉴定

基本信息

批准号：
10307013
负责人：
YAMAGUCHI Etsuro
金额：
$ 15.62万
依托单位：
HOKKAIDO UNIVERSITY
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (A).
财政年份：
1998
资助国家：
日本
起止时间：
1998 至 2000
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-10307013/
关键词：
high affinity IgE Fc receptor IL-4 atopy bronchial asthma atopic dermatitis IgE single nucleotide polymorphism CD14 ムスカリニック受容体1 インターロイキン4 高親和性IgEFC受容体遺伝子多型サルコイドーシス

项目摘要

(1) We found a C to T change, novel single nucleotide polymorphism at position -109 in the promoter region of high affinity receptor for Fc portion of IgE.There was no significant difference in the distribution of this polymorphism between patients with asthma and healthy controls. However, asthmatic patients homozygous for allele T had significantly higher total serum IgE levels (p=0.0015) than those with other genotypes (TC or CC). When ages at asthma onset were taken into account, the effects polymorphism on serum total IgE became more evident (p=0.0004).(2) We have also found a novel polymorphism (+33C/T) in the untranslated region of the IL-4 gene. The allele frequencies of T in asthmatic patients and healthy controls were 0.675 and 0.671, respectively, and there was no significant difference between the two groups. Meanwhile, individuals with genotype CT or CC in all study subjects or asthmatic patients had significantly higher serum total IgE levels, even when corrected for sex … More and ages compared with those with genotype CC.(3) We analyzed the interaction of two aforementioned single nucleotide polymorphisms (SNP) on serum total IgE levels. The effects of the two SNP in asthmatic patients seemed to be dependent on genotypes of each SNP.(4) We found no significant differences in the frequencies of two aforementioned SNP between patients with atopic dermatitis and healthy controls, thus indicating that these gene polymorphisms did not contribute to the development of the disease. Also, the two SNP did not correlate with serum total IgE levels in patients with atopic dermatitis. Therefore, we concluded that gene polymorphisms or environmental factors other than genes for high affinity IgE Fc receptor or IL-4 had greater impact on the interindividual differences in increased levels of serum total IgE in patients with atopic dermatitis.(5) We have found SNPs without amino acid changes at positions 287 and 1353 downstream from a translation initiation site of the muscarinic receptor M1 gene. A case-control study on the polymorphisms revealed that the frequency of genotype CC in patients with asthma was significantly higher than healthy controls, thus suggesting that M1 receptor gene may affect the occurrence of asthma independently of atopy. Less

（1）我们发现了C变化的C，在高亲和力E的启动子区域中，新型的单核苷酸多态性在哮喘和人类哮喘患者之间的多态性多样性中没有显着差异等位基因的纯合子血清水平（P = 0.0015）比Witype S（TC或CC）（哮喘发作年龄）哮喘患者和健康对照中的T为0.675和0.671，两组之间没有显着差异。基因型CC。特应性皮炎的水平）我们在毒蕈碱受体M1基因的翻译起始位点下游的位置上没有酸变化的SNP ，因此建议M1受体基因可能会影响哮喘的发生独立于特应性