Medical & Molecular Genetics, King's College London, UK.
Lupus. 2013 Oct;22(12):1205-13. doi: 10.1177/0961203313492870.
In this review, we explain the motivation for carrying out genome-wide association studies (GWAS), contrasting the achievements of linkage-based experiments for Mendelian traits with the difficulties found when applying that type of experiment to complex diseases. We explain the technical and organizational developments that were required to make GWAS feasible, as well as some of the theoretical concerns that were raised during the design of these studies. We describe the impressive achievements of GWAS in lupus, and compare them with the experiences in three other genetically complex disorders: rheumatoid arthritis, type 1 diabetes and coronary heart disease. GWAS have been successful in identifying many new susceptibility loci for these four diseases, and have provided the motivation for novel immunological work. We conclude by describing preliminary steps that have been taken towards translating the results of GWAS into improvements in patient care, explaining some of the difficulties involved, as well as successes that have already been achieved.
在这篇综述中，我们解释了进行全基因组关联研究（GWAS）的动机，将基于连锁的孟德尔性状实验的成就与将此类实验应用于复杂疾病时遇到的困难进行对比。我们解释了使 GWAS 成为可能所需的技术和组织发展，以及在这些研究设计过程中提出的一些理论问题。我们描述了 GWAS 在狼疮方面的令人印象深刻的成就，并将其与其他三种遗传复杂疾病（类风湿关节炎、1 型糖尿病和冠心病）的经验进行了比较。GWAS 已经成功地确定了这四种疾病的许多新的易感性位点，并为新的免疫学工作提供了动力。最后，我们描述了将 GWAS 的结果转化为改善患者护理的初步步骤，解释了其中涉及的一些困难，以及已经取得的成功。
