rs1234315

Genome-wide association study in 1,174 Korean SLE cases and 4,248 controls identified 12 genome-wide significant loci, including a novel locus spanning ATG16L2, FCHSD2, and P2RY2 peaking at rs11235667 (P=1.0×10⁻⁸, OR=0.59). The study replicated 10 previously established SLE risk loci (STAT4, TNFSF4, TNFAIP3, IKZF1, HIP1, IRF5, BLK, WDFY4, ETS1, IRAK1-MECP2) and identified novel independent effects in TNFAIP3 and TNFSF4. HLA-DRB1*1501 and HLA-DQB1*0602 were the strongest HLA associations (P=5.55×10⁻¹⁶, OR=1.85 and OR=1.90 respectively).

A case-control association study of 312 NMOSD patients and 487 healthy controls from a Han Chinese population found that TNFSF4 SNPs rs844648 and rs704840 were significantly associated with increased risk of neuromyelitis optica spectrum disorders (NMOSD), with rs844648 showing OR=1.30 (P=0.011) and rs704840 showing OR=1.27 (P=0.023) under the allelic model. The haplotype Ars844648Grs704840 was associated with increased risk (OR=1.27, P=0.026) while Grs844648Trs704840 was protective (OR=0.77, P=0.01).