Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond
- Title
- Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond
- Author
- 권영창
- Keywords
- genetics; epigenetics; genome; lupus; SLE
- Issue Date
- 2019-10
- Publisher
- MDPI
- Citation
- CELLS, v. 8, no. 10, article no. 1180
- Abstract
- 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.
- URI
- https://www.mdpi.com/2073-4409/8/10/1180https://repository.hanyang.ac.kr/handle/20.500.11754/153745
- ISSN
- 2073-4409
- DOI
- 10.3390/cells8101180
- Appears in Collections:
- RESEARCH INSTITUTE[S](부설연구소) > ETC
- Files in This Item:
- Update on the Genetics of Systemic Lupus Erythematosus Genome-Wide Association Studies and Beyond.pdfDownload
- Export
- RIS (EndNote)
- XLS (Excel)
- XML