Lee Hye-Soon, Bae Sang Cheol
Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Int J Rheum Dis. 2015 Feb;18(2):192-9. doi: 10.1111/1756-185X.12498. Epub 2014 Dec 19.
Recent advances in systemic lupus erythematosus (SLE) genetics in Asian populations have been achieved by genome-wide association studies (GWASs) and following replication studies, which expanded the genetic information about shared or population-specific risk genes between ethnic groups. Meta-analyses and multi-ethnic replication studies may be possible approaches that could demonstrate stronger or more suggestive evidence for multiple variants for SLE. In addition to the susceptibility of SLE itself, several genotype-phenotype analyses have shown that the specific phenotypes of SLE can also be influenced by genetic factors. Almost all SLE genetic loci are involved in the potential pathways of SLE pathogenesis, such as Toll-like receptor/type I interferon signaling, nuclear factor κB signaling, immune complex clearing mechanism, immune cell (B, T cell, neutrophil and monocyte) function and signaling, cell-cycle regulation, DNA methylation and autophagy. Further studies, including the next generation sequencing technology and the systematic strategy using bioinformatics, in addition to international collaboration among SLE genetic researchers, will give us better understanding of the genetic basis of SLE.
亚洲人群系统性红斑狼疮（SLE）遗传学的最新进展是通过全基因组关联研究（GWAS）以及后续的重复研究取得的，这些研究扩展了不同种族间关于共享或特定人群风险基因的遗传信息。荟萃分析和多民族重复研究可能是为SLE的多个变异体提供更强或更具提示性证据的可行方法。除了SLE本身的易感性外，一些基因型-表型分析表明，SLE的特定表型也会受到遗传因素的影响。几乎所有SLE遗传位点都参与了SLE发病机制的潜在途径，如Toll样受体/Ⅰ型干扰素信号传导、核因子κB信号传导、免疫复合物清除机制、免疫细胞（B细胞、T细胞、中性粒细胞和单核细胞）功能及信号传导、细胞周期调控、DNA甲基化和自噬。除了SLE遗传研究人员之间的国际合作外，包括下一代测序技术和使用生物信息学的系统策略在内的进一步研究，将使我们更好地理解SLE的遗传基础。
