Genetic Studies of Systemic Lupus Erythematosus in Asia

Abstract

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease in which genetic and environmental factors are involved in the pathogenesis. As well as HLA-DRB1, IRF5, and STAT4, the C8orf13-BLK, ITGAM, PXK, KIAA1542, and etc were recently identified from genome-wide association studies (GWASs) in Caucasians, hence GWAS in Asians will provide additional genetic information on SLE-susceptible genes. A total of 580,472 SNPs were analyzed using the Illumina Human610-Quad BeadChip�� for association with susceptibility of SLE in 400 Korean SLE patients and 455 ethnically matched healthy controls. MHC class II region was the strongest associated locus in Korean population. Outside MHC region, strong associations were identified in C8orf13-BLK and STAT, either. The statistical significances of MHC class II and C8orf13-BLK still remained after correction for multiple comparisons. As novel risk loci, CSMD1, CD40, CDKAL1, ZBTB20, and FLJ45139 showed modest associations with the susceptibility to SLE (10-7<p<10-5). In future study, replication in independent population, and fine-mapping of novel candidates is required as well as functional study to reveal a biologic role in the pathogenesis of SLE.