Palmer L J, Cookson W O
Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Respir Res. 2001;2(2):102-12. doi: 10.1186/rr45. Epub 2001 Mar 8.
Asthma is the most common chronic childhood disease in the developed nations, and is a complex disease that has high social and economic costs. Studies of the genetic etiology of asthma offer a way of improving our understanding of its pathogenesis, with the goal of improving preventive strategies, diagnostic tools, and therapies. Considerable effort and expense have been expended in attempts to detect specific polymorphisms in genetic loci contributing to asthma susceptibility. Concomitantly, the technology for detecting single nucleotide polymorphisms (SNPs) has undergone rapid development, extensive catalogues of SNPs across the genome have been constructed, and SNPs have been increasingly used as a method of investigating the genetic etiology of complex human diseases. This paper reviews both current and potential future contributions of SNPs to our understanding of asthma pathophysiology.
哮喘是发达国家最常见的儿童慢性疾病,是一种具有高昂社会和经济成本的复杂疾病。对哮喘遗传病因的研究为增进我们对其发病机制的理解提供了一种途径,目标是改进预防策略、诊断工具和治疗方法。人们已投入了大量精力和费用来试图检测导致哮喘易感性的基因位点中的特定多态性。与此同时,检测单核苷酸多态性(SNP)的技术得到了迅速发展,全基因组范围内的SNP广泛目录已构建完成,并且SNP越来越多地被用作研究复杂人类疾病遗传病因的一种方法。本文综述了SNP在我们理解哮喘病理生理学方面当前和未来可能做出的贡献。