Perichon B, Krishnamoorthy R
INSERM U. 120 Hôpital R. Debré, Paris, France.
Allerg Immunol (Paris). 1991 Sep;23(7):301-7.
Study of atopic asthma provides an excellent model for our understanding of the complex molecular genetics of human immune responsiveness. Family and population studies have suggested that multiple genetic factors influence global and specific immune responsiveness to allergens. Global response of IgE production appears to be controlled by a dominant "atopy gene" unlinked to HLA class II associated Ir genes, whereas the specific immune response in terms of IgE and IgG antibodies against precise allergens is unequivocally linked to the HLA class II molecules. Other genetic factors/polygenic component may influence the bronchial hyperreactivity observed among asthmatics. Not the least, the genetics of the "releasability" of mediators of inflammation from basophils should also be considered in the genetic studies of asthma. Given this overall complexity of genetics of asthma, we primarily focused our attention to the genetics of a defined subgroup of asthmatic patients. We have chosen to study three well-defined clinical subsets (atopic asthma with and without aspirin sensitization, and nonatopic asthma with aspirin sensitization) in comparison to age and sex matched control groups for their HLA class II polymorphism at the DNA level. Use of in vitro DNA amplification and allele specific restriction enzymes allowed us to define that a particular combination of a specific DQ and DPB alleles is highly prevalent among asthmatic patients with aspirin sensitization and this is exclusively in an atopic context (R.R. = 54). Intriguingly, an identical combination of HLA alleles are similarly enriched among patients with coeliac disease. Further studies are required to understand such an intriguing similarities of molecular markers between these apparently two unrelated disorders.
对特应性哮喘的研究为我们理解人类免疫反应的复杂分子遗传学提供了一个极佳的模型。家族和群体研究表明,多种遗传因素影响对过敏原的整体和特异性免疫反应。IgE产生的整体反应似乎由一个与HLA II类相关Ir基因不连锁的显性“特应性基因”控制,而针对特定过敏原的IgE和IgG抗体方面的特异性免疫反应则明确与HLA II类分子相关。其他遗传因素/多基因成分可能影响哮喘患者中观察到的支气管高反应性。同样重要的是,在哮喘的遗传研究中也应考虑嗜碱性粒细胞炎症介质“释放性”的遗传学。鉴于哮喘遗传学的总体复杂性,我们主要将注意力集中在特定亚组哮喘患者的遗传学上。我们选择研究三个明确界定的临床亚组(有和无阿司匹林致敏的特应性哮喘,以及有阿司匹林致敏的非特应性哮喘),并与年龄和性别匹配的对照组比较其DNA水平的HLA II类多态性。使用体外DNA扩增和等位基因特异性限制酶使我们能够确定,特定DQ和DPB等位基因的特定组合在有阿司匹林致敏的哮喘患者中高度流行,且这仅在特应性背景下出现(相对风险 = 54)。有趣的是,相同的HLA等位基因组合在乳糜泻患者中同样富集。需要进一步研究以了解这两种明显不相关疾病之间分子标记的这种有趣相似性。