A family study of genes in atopic dermatitis.

特应性皮炎（AD）或特应性湿疹是构成特应性三位一体（哮喘、花粉热和湿疹）的第三种情况。它通常在两岁前发病。它很常见，影响了大约10%的澳大利亚儿童和7%的澳大利亚成年人，并且患病率正在上升。与哮喘一样，已知基因在其病因中起重要作用，据报道，不同的研究人员涉及了几种不同的基因。这些发现在不同的国家或种族群体中并不总是重复的。第一，肥大细胞乳糜酶基因在日本似乎与阿尔茨海默病有关，但在澳大利亚和意大利却没有。然而，该基因可能只对血清总免疫球蛋白E低的阿尔茨海默病负责，大约占所有阿尔茨海默病的20%。因此，以前的研究可能没有包括足够的这种亚型的病例来可靠地检测这种关联。目前的研究旨在测试两组家庭中所有已发表的基因：一组是阿尔茨海默病和哮喘或花粉热同时存在的家庭（180个家庭），另一组是阿尔茨海默病单独存在的家庭（100个家庭）。我们还将测试与基因组特定区域的遗传联系，其中特定基因尚未被识别，以及在这些区域中新发现的可能与AD相关的基因变异。确认和完善AD致病基因的性质有助于基本理解疾病的生化途径，并最终设计干扰这些途径的药物。

Atopic dermatitis (AD) or atopic eczema is the third condition making up the atopic triad (asthma, hayfever and eczema). It usually has its onset before two years of age. It is common, affecting approximately 10% of Australian children and 7% of Australian adults, and is increasing in prevalence. As with asthma, genes are known to be important in its causation, and several different genes have been reported to be involved by different investigators. These findings are not always repeatable in different countries or ethnic groups. One, the mast cell chymase gene seems to be associated with AD in Japan, but not in Australia or Italy. However, this gene may be responsible only for AD where total serum Immunoglobulin E is low, roughly 20% of all AD. Therefore, the previous studies may not have included enough cases of this subtype to reliably detect the association. The present study aims to test all the published genes in two panels of families: one where both AD and asthma or hayfever are present in the family (180 families), the second where AD alone is present (100 families). We will also test for genetic linkage to particular regions of the genome, where the specific gene is yet to be identified, and for newly discovered gene variants in these regions that may be associated with AD. Confirming and refining the nature of genes involved in the causation of AD is useful for the basic understanding of biochemical pathways to disease and ultimately to the design of drugs to interfere with these pathways.