Functional and genetic analysis of PHF11, a new gene associated with atopic dermatitis and asthma

与特应性皮炎和哮喘相关的新基因 PHF11 的功能和遗传分析

• 批准号: nhmrc : 402659
• 负责人: A/Pr Michael Rolph
• 金额: $ 32.22万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2006
• 资助国家: 澳大利亚
• 起止时间: 2006-01-01 至 2008-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/functional-genetic-analysis-dermatitis-asthma/98405
• 关键词: Functional; genetic; analysis; PHF11; new

Atopic dermatitis, or eczema, is an increasingly common severe allergic condition affecting the skin that afflicts up to 30% of all Australian children. Eczema has significant financial impact on families as well on the health and well being of the affected child. The majority of asthmatics are also allergic, explaining why many children who suffer from eczema often go on to develop asthma as well. A familial history of asthma or eczema is an important risk factors for a child developing the disorder, meaning that allergy is to a large extent determined by the genes we inherit from our parents. Our genes consist of four different building blocks, called nucleotides, which are identified by four letters: A, G, C and T. Each gene has a specific spelling of these four letters, although between any two people there will invariably be small single letter differences in the way a gene is spelt. Normally, these differences have no effect. In an allergic individual, however, these differences do have an effect. Identifying differences in the way a gene is spelt and why this should lead to eczema or asthma is a major research goal. In the past several years a number of genes have been identified that play an important role in allergy and we have recently identified a spelling difference in a new gene that we believe is important in the allergic response of eczema and asthma. At the moment, we can only guess how this gene might work. We know it is expressed in cells of our immune system that are important in allergy. We also suspect it might be an on or off switch for other genes important for allergy. This project will test these ideas and show how differences in the way this gene is spelt lead to differences in how this gene works. This will be important in adding another piece to the puzzle of how genes control allergy and could lead to better and earlier treatment of these disorders with improved health for affected children as well as adults.

特应性皮炎，或湿疹，是一种越来越常见的严重过敏性疾病，影响皮肤，折磨多达30%的所有澳大利亚儿童。经济衰退对家庭以及受影响儿童的健康和福祉产生重大的经济影响。大多数哮喘患者也是过敏性的，这就解释了为什么许多患有湿疹的儿童也会患上哮喘。哮喘或湿疹的家族史是儿童患上这种疾病的重要风险因素，这意味着过敏在很大程度上是由我们从父母那里继承的基因决定的。我们的基因由四种不同的构建模块组成，称为核苷酸，由四个字母识别：A，G，C和T。每个基因都有这四个字母的特定拼写，尽管在任何两个人之间，基因的拼写方式总是会有很小的单字母差异。通常，这些差异没有影响。然而，在过敏个体中，这些差异确实有影响。确定基因拼写方式的差异以及为什么这会导致湿疹或哮喘是一个主要的研究目标。在过去的几年里，已经发现了一些在过敏中起重要作用的基因，我们最近发现了一个新基因的拼写差异，我们认为这个基因在湿疹和哮喘的过敏反应中很重要。目前，我们只能猜测这个基因是如何工作的。我们知道它在我们免疫系统的细胞中表达，这些细胞在过敏中很重要。我们还怀疑它可能是其他对过敏很重要的基因的开关。这个项目将测试这些想法，并显示这种基因拼写方式的差异如何导致这种基因工作方式的差异。这对于为基因如何控制过敏症的难题增加另一块拼图非常重要，并可能导致更好和更早地治疗这些疾病，改善受影响儿童和成人的健康状况。