全基因组关联研究皮肤复杂疾病。

Genome-wide association study of skin complex diseases.

机构信息

Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China.

出版信息

J Dermatol Sci. 2012 May;66(2):89-97. doi: 10.1016/j.jdermsci.2012.02.017. Epub 2012 Mar 5.

DOI:10.1016/j.jdermsci.2012.02.017

Abstract

Complex diseases are caused by both genetic and environmental factors. Over decades, scientists endeavored to uncover the genetic myth of complex diseases by linkage and association studies. Since 2005, the genome-wide association study (GWAS) has been proved to be the most powerful and efficient study design thus far in identifying genetic variants that are associated with complex diseases. More than 230 complex diseases and traits have been investigated by this approach. In dermatology, 10 skin complex diseases have been investigated, a wealth of common susceptibility variants conferring risk for skin complex diseases have been discovered. These findings point to genes and/or loci involved in biological systems worth further investigating by using other methodologies. Certainly, as our understanding of the genetic etiology of skin complex diseases continues to mature, important opportunities will emerge for developing more effective diagnostic and clinical management tools for these diseases.

摘要

复杂疾病是由遗传和环境因素共同引起的。几十年来，科学家们一直致力于通过连锁和关联研究来揭示复杂疾病的遗传奥秘。自 2005 年以来，全基因组关联研究（GWAS）已被证明是迄今为止最强大、最有效的研究设计，可用于鉴定与复杂疾病相关的遗传变异。通过这种方法已经研究了超过 230 种复杂疾病和特征。在皮肤病学中，已经研究了 10 种皮肤复杂疾病，发现了大量常见的易感变异，这些变异增加了皮肤复杂疾病的风险。这些发现指向了参与生物系统的基因和/或基因座，值得进一步使用其他方法进行研究。当然，随着我们对皮肤复杂疾病遗传病因的理解不断成熟，为这些疾病开发更有效诊断和临床管理工具的重要机会将会出现。