role of cytokines in systemic lupus erythematosus recent progress from gwas and sequencing细胞因子在系统性红斑狼疮进展从gwas和测序.pdfVIP

Hindawi Publishing Corporation Journal of Biomedicine and Biotechnology Volume 2012, Article ID 798924, 17 pages doi:10.1155/2012/798924 Review Article Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing John J. Connolly1 and Hakon Hakonarson1, 2 1 Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 2 Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA Correspondence should be addressed to Hakon Hakonarson, hakonarson@ Received 2 December 2011; Revised 24 February 2012; Accepted 24 February 2012 Academic Editor: Andrei Surguchov Copyright © 2012 J. J. Connolly and H. Hakonarson. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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 dis