Petukhova Lynn, Christiano Angela M
1] Department of Epidemiology, Columbia University, New York, New York, USA [2] Department of Dermatology, Columbia University, New York, New York, USA.
J Investig Dermatol Symp Proc. 2013 Dec;16(1):S16-22. doi: 10.1038/jidsymp.2013.5.
A major impetus to initiating the Human Genome Project was the belief that information encoded in the human genome would "accelerate progress in understanding disease pathogenesis and in developing new approaches to diagnosis, treatment, and prevention in many areas of medicine". Alopecia areata (AA) is a notable example of how understanding the genetic basis of a disease can have an impact on the care of patients in a relatively short time. Our first genome-wide association study in AA identified an initial set of common variants that increase risk of AA, some of which are shared with other autoimmune diseases. Thus, there has already been rapid progress in the translation of this information into new therapeutic strategies for patients, as drugs are already on the market for some of these disorders that can now be tested in AA. Informed by the progress achieved with genetic studies for mechanistically aligned autoimmune diseases, we are poised to carry this work forward and interrogate the underlying disease mechanisms in AA. Importantly, future genetic studies aimed at identifying additional susceptibility genes will further establish the foundation for the application of precision medicine in the care of AA patients.
启动人类基因组计划的一个主要推动力是这样一种信念，即人类基因组中编码的信息将“加速在理解疾病发病机制以及开发许多医学领域的诊断、治疗和预防新方法方面的进展”。斑秃（AA）是一个显著的例子，说明了解疾病的遗传基础如何能在相对较短的时间内对患者护理产生影响。我们在斑秃方面的第一项全基因组关联研究确定了一组初始的常见变异，这些变异会增加斑秃的风险，其中一些与其他自身免疫性疾病共有。因此，在将这些信息转化为针对患者的新治疗策略方面已经取得了快速进展，因为针对其中一些疾病的药物已经上市，现在可以在斑秃患者中进行测试。受机制相关的自身免疫性疾病基因研究取得的进展启发，我们准备推进这项工作，并探究斑秃潜在的疾病机制。重要的是，未来旨在识别更多易感基因的基因研究将进一步为精准医学在斑秃患者护理中的应用奠定基础。
