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Review

Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond

by 1,†, 2,†, 2,* and 3,4,*
1
Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, 222–1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea
2
Department of Biology, Kyung Hee University, 26 Kyungheedae-ro, Dongdaemun-gu, Seoul 02447, Korea
3
Division of Rheumatology, University Medicine Cluster, National University Health System, Singapore 119228, Singapore
4
Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Cells 2019, 8(10), 1180; https://doi.org/10.3390/cells8101180
Received: 31 August 2019 / Revised: 20 September 2019 / Accepted: 28 September 2019 / Published: 30 September 2019
(This article belongs to the Special Issue The Molecular and Cellular Basis for Lupus)
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of complex etiology that primarily affects women of childbearing age. The development of SLE is attributed to the breach of immunological tolerance and the interaction between SLE-susceptibility genes and various environmental factors, resulting in the production of pathogenic autoantibodies. Working in concert with the innate and adaptive arms of the immune system, lupus-related autoantibodies mediate immune-complex deposition in various tissues and organs, leading to acute and chronic inflammation and consequent end-organ damage. Over the past two decades or so, the impact of genetic susceptibility on the development of SLE has been well demonstrated in a number of large-scale genetic association studies which have uncovered a large fraction of genetic heritability of SLE by recognizing about a hundred SLE-susceptibility loci. Integration of genetic variant data with various omics data such as transcriptomic and epigenomic data potentially provides a unique opportunity to further understand the roles of SLE risk variants in regulating the molecular phenotypes by various disease-relevant cell types and in shaping the immune systems with high inter-individual variances in disease susceptibility. In this review, the catalogue of SLE susceptibility loci will be updated, and biological signatures implicated by the SLE-risk variants will be critically discussed. It is optimistically hoped that identification of SLE risk variants will enable the prognostic and therapeutic biomarker armamentarium of SLE to be strengthened, a major leap towards precision medicine in the management of the condition. View Full-Text
Keywords: genetics; epigenetics; genome; lupus; SLE genetics; epigenetics; genome; lupus; SLE
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MDPI and ACS Style

Kwon, Y.-C.; Chun, S.; Kim, K.; Mak, A. Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond. Cells 2019, 8, 1180. https://doi.org/10.3390/cells8101180

AMA Style

Kwon Y-C, Chun S, Kim K, Mak A. Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond. Cells. 2019; 8(10):1180. https://doi.org/10.3390/cells8101180

Chicago/Turabian Style

Kwon, Young-Chang, Sehwan Chun, Kwangwoo Kim, and Anselm Mak. 2019. "Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond" Cells 8, no. 10: 1180. https://doi.org/10.3390/cells8101180

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