硬皮病的遗传学：对个性化医学的启示？
Genetics of scleroderma: implications for personalized medicine?
机构信息
Division of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX 77030, USA.
出版信息
BMC Med. 2013 Jan 11;11:9. doi: 10.1186/1741-7015-11-9.
Abstract
Significant advances have been made in understanding the genetic basis of systemic sclerosis (scleroderma) in recent years. Can these discoveries lead to individualized monitoring and treatment? Besides robustly replicated genetic susceptibility loci, several genes have been recently linked to various systemic sclerosis disease manifestations. Furthermore, inclusion of genetic studies in design and analysis of drug trials could lead to development of genetic biomarkers that predict treatment response. Future genetic studies in well-characterized systemic sclerosis cohorts paired with advanced analytic approaches can lead to development of genetic biomarkers for targeted diagnostic and therapeutic interventions in systemic sclerosis.
摘要
近年来，人们在理解系统性硬化症（硬皮病）的遗传基础方面取得了重大进展。这些发现能否带来个体化的监测和治疗？除了经过强有力复制的遗传易感性位点外，最近还发现了一些与各种系统性硬化症疾病表现相关的基因。此外，将遗传研究纳入药物试验的设计和分析中，可以开发出预测治疗反应的遗传生物标志物。在特征明确的系统性硬化症队列中进行未来的遗传研究，并结合先进的分析方法，有望开发出针对系统性硬化症的靶向诊断和治疗干预的遗传生物标志物。
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