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Journal of Biomedicine and Biotechnology
Volume 2012, Article ID 798924, 17 pages
Review Article

Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing

1Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
2Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA

Received 2 December 2011; Revised 24 February 2012; Accepted 24 February 2012

Academic Editor: Andrei Surguchov

Copyright © 2012 John J. Connolly and Hakon 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 discussion points pertinent to the field.