Connolly John J, Hakonarson Hakon
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
J Biomed Biotechnol. 2012;2012:798924. doi: 10.1155/2012/798924. Epub 2012 May 10.
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder, known to have a strong genetic component. Concordance between monozygotic twins is approximately 30-40%, which is 8-20 times higher than that of dizygotic twins. In the last decade, genome-wide approaches to understanding SLE have yielded many candidate genes, which are important to understanding the pathophysiology of the disease and potential targets for pharmaceutical intervention. In this paper, we focus on the role of cytokines and examine how genome-wide association studies, copy number variation studies, and next-generation sequencing are being employed to understand the etiology of SLE. Prominent genes identified by these approaches include BLK, FCγR3B, and TREX1. Our goal is to present a brief overview of genomic approaches to SLE and to introduce some of the key discussion points pertinent to the field.
系统性红斑狼疮（SLE）是一种复杂的自身免疫性疾病，已知具有很强的遗传成分。同卵双胞胎之间的一致性约为30%-40%，这比异卵双胞胎高出8-20倍。在过去十年中，全基因组方法用于理解SLE已产生了许多候选基因，这对于理解该疾病的病理生理学和药物干预的潜在靶点很重要。在本文中，我们重点关注细胞因子的作用，并研究全基因组关联研究、拷贝数变异研究和新一代测序如何被用于理解SLE的病因。通过这些方法鉴定出的重要基因包括BLK、FCγR3B和TREX1。我们的目标是简要概述SLE的基因组方法，并介绍该领域一些关键的讨论要点。
